{ "uniprot_canonical_ac": "O43581-1", "uniprot_ac": "O43581", "uniprot_id": "SYT7_HUMAN", "mass": { "chemical_mass": 45501.0, "monoisotopic_mass": 45501.0 }, "refseq": { "ac": "NP_001238994", "name": "synaptotagmin-7 isoform 1", "summary": "This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" }, "gene_names": [ { "name": "SYT7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43581", "id": "O43581" }, { "name": "IPCA-7; IPCA7; PCANAP7; SYT-VII; SYTVII", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994", "id": "NP_001238994" }, { "name": "PCANAP7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43581", "id": "O43581" }, { "name": "SYT7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994", "id": "NP_001238994" } ], "protein_names": [ { "name": "Synaptotagmin-7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43581" }, { "name": "IPCA-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43581" }, { "name": "Prostate cancer-associated protein 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43581" }, { "name": "Synaptotagmin VII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43581" }, { "name": "SytVII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43581" }, { "name": "prostate cancer-associated protein 7; synaptotagmin VII", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994", "id": "NP_001238994" }, { "name": "synaptotagmin-7 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994", "id": "NP_001238994" } ], "function": [ { "annotation": "Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory and synaptic vesicles through Ca(2+) and phospholipid binding to the C2 domain (By similarity). Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). SYT7 binds Ca(2+) with high affinity and slow kinetics compared to other synaptotagmins (By similarity). Involved in Ca(2+)-triggered lysosomal exocytosis, a major component of the plasma membrane repair (PubMed:11342594). Ca(2+)-regulated delivery of lysosomal membranes to the cell surface is also involved in the phagocytic uptake of particles by macrophages (By similarity). Ca(2+)-triggered lysosomal exocytosis also plays a role in bone remodeling by regulating secretory pathways in osteoclasts and osteoblasts (By similarity). In case of infection, involved in participates cell invasion by Trypanosoma cruzi via Ca(2+)-triggered lysosomal exocytosis (PubMed:11342594, PubMed:15811535). Involved in cholesterol transport from lysosome to peroxisome by promoting membrane contacts between lysosomes and peroxisomes: probably acts by promoting vesicle fusion by binding phosphatidylinositol-4,5-bisphosphate on peroxisomal membranes (By similarity). Acts as a key mediator of synaptic facilitation, a process also named short-term synaptic potentiation: synaptic facilitation takes place at synapses with a low initial release probability and is caused by influx of Ca(2+) into the axon terminal after spike generation, increasing the release probability of neurotransmitters (By similarity). Probably mediates synaptic facilitation by directly increasing the probability of release (By similarity). May also contribute to synaptic facilitation by regulating synaptic vesicle replenishment, a process required to ensure that synaptic vesicles are ready for the arrival of the next action potential: SYT7 is required for synaptic vesicle replenishment by acting as a sensor for Ca(2+) and by forming a complex with calmodulin (By similarity). Also acts as a regulator of Ca(2+)-dependent insulin and glucagon secretion in beta-cells (By similarity). Triggers exocytosis by promoting fusion pore opening and fusion pore expansion in chromaffin cells (By similarity). Also regulates the secretion of some non-synaptic secretory granules of specialized cells (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581#function" }, { "database": "PubMed", "id": "15811535", "url": "https://glygen.org/publication/PubMed/15811535" }, { "database": "UniProtKB", "id": "Q62747", "url": "https://www.uniprot.org/uniprot/Q62747#function" }, { "database": "PubMed", "id": "11342594", "url": "https://glygen.org/publication/PubMed/11342594" }, { "database": "UniProtKB", "id": "Q9R0N7", "url": "https://www.uniprot.org/uniprot/Q9R0N7#function" } ] }, { "annotation": "Identified the conserved alternative splicing events in the spacer domain of Syt VII; also shown that Syt VIIa-GFP is mainly localized in the perinuclear region and tips of neurites (dense-core vesicles), and not in the plasma membrane", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" }, { "database": "PubMed", "id": "12071850", "url": "https://glygen.org/publication/PubMed/12071850" } ] }, { "annotation": "SYT7 is a key player in increasing exosome secretion and promoting angiogenesis in non-small-cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" }, { "database": "PubMed", "id": "37774826", "url": "https://glygen.org/publication/PubMed/37774826" } ] }, { "annotation": "SYT7 plays a role in promoting thyroid cancer by mediating HMGB3 ubiquitination. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" }, { "database": "PubMed", "id": "35073278", "url": "https://glygen.org/publication/PubMed/35073278" } ] }, { "annotation": "Synaptotagmin-7 deficiency induces mania-like behavioral abnormalities through attenuating GluN2B activity. Erratum:[Proc Natl Acad Sci U S A. 2021 Aug 10;118(32):. PMID: 34341124]", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" }, { "database": "PubMed", "id": "33229564", "url": "https://glygen.org/publication/PubMed/33229564" } ] }, { "annotation": "Syt-7 overexpression predicts poor prognosis and promotes cell proliferation in hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" }, { "database": "PubMed", "id": "33052751", "url": "https://glygen.org/publication/PubMed/33052751" } ] }, { "annotation": "This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43581", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43581" } ], "glycoeffect": [], "start_pos": 303, "end_pos": 303, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "61523827", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D303", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://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": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "70.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43581", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43581" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43581", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43581" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43581", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43581" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43581" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "common_name": "Human" } ], "gene": [ { "name": "SYT7", "url": "https://www.uniprot.org/uniprot/O43581", "locus": { "chromosome": "11", "start_pos": 61513714, "end_pos": 61581148, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000011347", "url": "https://www.ensembl.org/id/ENSG00000011347" } ] } } ], "crossref": [ { "id": "ENSG00000011347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011347", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43581", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43581", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd08386", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08386", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd08405", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08405", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SYT7", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT7", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9066", "url": "https://www.ncbi.nlm.nih.gov/gene/9066", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11514", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11514", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43581", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43581*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035892", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037732", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037732", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037741", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037741", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9066", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9066", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604146", "url": "http://www.omim.org/entry/604146", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43581", "url": "https://www.nextprot.org/entry/NX_O43581", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43581", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43581", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HSEPSIG", "url": "https://omabrowser.org/oma/group/HSEPSIG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "590187at2759", "url": "http://www.orthodb.org/?query=590187at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10024", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10024", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10024:SF366", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10024:SF366", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2D8K", "url": "https://www.rcsb.org/structure/2D8K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00168", "url": "http://pfam.xfam.org/family/PF00168", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43581", "url": "https://pharos.nih.gov/targets/O43581", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43581", "url": "http://purl.obolibrary.org/obo/PR_O43581", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F5GX00", "url": "https://www.uniprot.org/uniprot/F5GX00", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GX00-1", "url": "https://www.uniprot.org/uniprot/F5GX00-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8G7", "url": "https://www.uniprot.org/uniprot/F5H8G7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8G7-1", "url": "https://www.uniprot.org/uniprot/F5H8G7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581-1", "url": "https://www.uniprot.org/uniprot/O43581-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581-2", "url": "https://www.uniprot.org/uniprot/O43581-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581-3", "url": "https://www.uniprot.org/uniprot/O43581-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581-4", "url": "https://www.uniprot.org/uniprot/O43581-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581-5", "url": "https://www.uniprot.org/uniprot/O43581-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43581-6", "url": "https://www.uniprot.org/uniprot/O43581-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAIKLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 403, "header": "sp|O43581-1|SYT7_HUMAN Isoform 1 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "isoforms": [ { "isoform_ac": "F5GX00-1", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAINDLDRDFWNNNESTVQQKWSSYPPKEFILNISPYAPYGDPRLSLNPLFLRR", "length": 122, "header": "tr|F5GX00-1|F5GX00_HUMAN Computationally mapped isoform of Synaptotagmin 7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=1 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61546641, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539468.5", "url": "https://www.ensembl.org/id/ENST00000539468.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441184.1", "url": "https://www.ensembl.org/id/ENSP00000441184.1" } ] } }, { "isoform_ac": "F5H8G7-1", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAIKLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFV", "length": 175, "header": "tr|F5H8G7-1|SYT7_HUMAN Computationally mapped isoform of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=1 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61528012, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545053.1", "url": "https://www.ensembl.org/id/ENST00000545053.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000443576.1", "url": "https://www.ensembl.org/id/ENSP00000443576.1" } ] } }, { "isoform_ac": "O43581-1", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAIKLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 403, "header": "sp|O43581-1|SYT7_HUMAN Isoform 1 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61518630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263846.8", "url": "https://www.ensembl.org/id/ENST00000263846.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000263846.4", "url": "https://www.ensembl.org/id/ENSP00000263846.4" } ] } }, { "isoform_ac": "O43581-2", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAINGTLLSGAKVAAAAGLAVEREGRLGEKPAPVPPPGEDALRSGGAAPSEPGSGGKAGRGRWRTVQSHLAAGKLNLSKLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 478, "header": "sp|O43581-2|SYT7_HUMAN Isoform 2 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61518630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540677.5", "url": "https://www.ensembl.org/id/ENST00000540677.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444201.1", "url": "https://www.ensembl.org/id/ENSP00000444201.1" } ] } }, { "isoform_ac": "O43581-3", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAINDLDRDFWNNNESTVQQKWSSYPPKEFILNISPYAPYGDPRLSLNGTLLSGAKVAAAAGLAVEREGRLGEKPAPVPPPGEDALRSGGAAPSEPGSGGKAGRGRWRTVQSHLAAGKLNLSNFEDSTLSTATTLESIPSSTGEPKCQRPRTLMRQQSLQQPLSQHQRGRQPSQPTTSQSLGQLQAHMASAPGPNPRAYGRGQARQGTSAGSKYRAAGGRSRSNPGSWDHVVGQIRNRGLDMKSFLEGRMVVLSLVLGLSEQDDFANIPDLQNPGTQQNQNAQGDKRLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 686, "header": "sp|O43581-3|SYT7_HUMAN Isoform 3 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61518630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539008.6", "url": "https://www.ensembl.org/id/ENST00000539008.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000439694.1", "url": "https://www.ensembl.org/id/ENSP00000439694.1" } ] } }, { "isoform_ac": "O43581-4", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAINDLDRDFWNNNESTVQQKWSSYPPKEFILNISPYAPYGDPRLSLNFEDSTLSTATTLESIPSSTGEPKCQRPRTLMRQQSLQQPLSQHQRGRQPSQPTTSQSLGQLQAHMASAPGPNPRAYGRGQARQGTSAGSKYRAAGGRSRSNPGSWDHVVGQIRNRGLDMKSFLEGRMVVLSLVLGLSEQDDFANIPDLQNPGTQQNQNAQGDKRLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 611, "header": "sp|O43581-4|SYT7_HUMAN Isoform 4 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61518630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542670.5", "url": "https://www.ensembl.org/id/ENST00000542670.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444019.1", "url": "https://www.ensembl.org/id/ENSP00000444019.1" } ] } }, { "isoform_ac": "O43581-5", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAINDLDRDFWNNNESTVQQKWSSYPPKEFILNISPYAPYGDPRLSLNGTLLSGAKVAAAAGLAVEREGRLGEKPAPVPPPGEDALRSGGAAPSEPGSGGKAGRGRWRTVQSHLAAGKLNLSKLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 522, "header": "sp|O43581-5|SYT7_HUMAN Isoform 5 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61518630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535826.5", "url": "https://www.ensembl.org/id/ENST00000535826.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437720.1", "url": "https://www.ensembl.org/id/ENSP00000437720.1" } ] } }, { "isoform_ac": "O43581-6", "url": "", "sequence": { "sequence": "MYRDPEAASPGAPSRDVLLVSAIITVSLSVTVVLCGLCHWCQRKLGKRYKNSLETVGTPDSGRGRSEKKAINDLDRDFWNNNESTVQQKWSSYPPKEFILNISPYAPYGDPRLSLKLPAGGKAVNTAPVPGQTPHDESDRRTEPRSSVSDLVNSLTSEMLMLSPGSEEDEAHEGCSRENLGRIQFSVGYNFQESTLTVKIMKAQELPAKDFSGTSDPFVKIYLLPDKKHKLETKVKRKNLNPHWNETFLFEGFPYEKVVQRILYLQVLDYDRFSRNDPIGEVSIPLNKVDLTQMQTFWKDLKPCSDGSGSRGELLLSLCYNPSANSIIVNIIKARNLKAMDIGGTSDPYVKVWLMYKDKRVEKKKTVTMKRNLNPIFNESFAFDIPTEKLRETTIIITVMDKDKLSRNDVIGKIYLSWKSGPGEVKHWKDMIARPRQPVAQWHQLKA", "length": 447, "header": "sp|O43581-6|SYT7_HUMAN Isoform 6 of Synaptotagmin-7 OS=Homo sapiens OX=9606 GN=SYT7 PE=1 SV=3 CANONICAL=O43581-1" }, "locus": { "chromosome": "11", "start_pos": 61580820, "end_pos": 61518630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542836.5", "url": "https://www.ensembl.org/id/ENST00000542836.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444568.1", "url": "https://www.ensembl.org/id/ENSP00000444568.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43581", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43581" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 103, "end_pos": 103, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43581" }, { "database": "PubMed", "id": "26216970", "url": "https://glygen.org/publication/PubMed/26216970" } ], "site_lbl": "Ser103" }, { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "site_lbl": "Ser119" }, { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "site_lbl": "Ser122" }, { "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "site_lbl": "Ser52" }, { "start_pos": 58, "end_pos": 58, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "site_lbl": "Thr58" }, { "start_pos": 61, "end_pos": 61, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "site_lbl": "Ser61" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The Exocytosis-regulatory protein synaptotagmin VII mediates cell invasion by Trypanosoma cruzi.", "journal": "The Journal of experimental medicine", "date": "2001", "authors": "Caler EV, Chakrabarti S, Fowler KT, Rao S, Andrews NW", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "reference": [ { "type": "PubMed", "id": "11342594", "url": "https://glygen.org/publication/PubMed/11342594" } ] }, { "title": "CASK and protein 4.1 support F-actin nucleation on neurexins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Biederer T, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "11604393", "url": "https://glygen.org/publication/PubMed/11604393" } ] }, { "title": "Alternative splicing isoforms of synaptotagmin VII in the mouse, rat and human.", "journal": "Biochem. J.", "date": "2002", "authors": "Fukuda M, Ogata Y, Saegusa C, Kanno E, Mikoshiba K", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" }, { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" } ], "reference": [ { "type": "PubMed", "id": "12071850", "url": "https://glygen.org/publication/PubMed/12071850" } ] }, { "title": "Neuroligin 2 is exclusively localized to inhibitory synapses.", "journal": "European journal of cell biology", "date": "2004", "authors": "Varoqueaux F, Jamain S, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "15540461", "url": "https://glygen.org/publication/PubMed/15540461" } ] }, { "title": "Trypanosoma cruzi invades synaptotagmin VII-deficient cells by a PI-3 kinase independent pathway.", "journal": "Molecular and biochemical parasitology", "date": "2005-05", "authors": "Chakrabarti Sabyasachi, Andrade Luciana O, Andrews Norma W", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "reference": [ { "type": "PubMed", "id": "15811535", "url": "https://glygen.org/publication/PubMed/15811535" } ] }, { "title": "A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins.", "journal": "Neuron", "date": "2005", "authors": "Boucard AA, Chubykin AA, Comoletti D, Taylor P, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16242404", "url": "https://glygen.org/publication/PubMed/16242404" } ] }, { "title": "Structure function and splice site analysis of the synaptogenic activity of the neurexin-1 beta LNS domain.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2006", "authors": "Graf ER, Kang Y, Hauner AM, Craig AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16624946", "url": "https://glygen.org/publication/PubMed/16624946" } ] }, { "title": "Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex.", "journal": "Neuron", "date": "2006", "authors": "Chih B, Gollan L, Scheiffele P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16846852", "url": "https://glygen.org/publication/PubMed/16846852" } ] }, { "title": "Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses.", "journal": "The European journal of neuroscience", "date": "2007", "authors": "Budreck EC, Scheiffele P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "17897391", "url": "https://glygen.org/publication/PubMed/17897391" } ] }, { "title": "Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Reissner C, Klose M, Fairless R, Missler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "18812509", "url": "https://glygen.org/publication/PubMed/18812509" } ] }, { "title": "The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2008", "authors": "Haeckel A, Ahuja R, Gundelfinger ED, Qualmann B, Kessels MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "18829961", "url": "https://glygen.org/publication/PubMed/18829961" } ] }, { "title": "LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formation.", "journal": "Neuron", "date": "2009", "authors": "Ko J, Fuccillo MV, Malenka RC, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20064387", "url": "https://glygen.org/publication/PubMed/20064387" } ] }, { "title": "LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formation.", "journal": "Neuron", "date": "2009", "authors": "de Wit J, Sylwestrak E, O'Sullivan ML, Otto S, Tiglio K, Savas JN, Yates JR 3rd, Comoletti D, Taylor P, Ghosh A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20064388", "url": "https://glygen.org/publication/PubMed/20064388" } ] }, { "title": "LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse development.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2010", "authors": "Siddiqui TJ, Pancaroglu R, Kang Y, Rooyakkers A, Craig AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20519524", "url": "https://glygen.org/publication/PubMed/20519524" } ] }, { "title": "Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Hoon M, Soykan T, Falkenburger B, Hammer M, Patrizi A, Schmidt KF, Sassoe-Pognetto M, Lowel S, Moser T, Taschenberger H, Brose N, Varoqueaux F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "21282647", "url": "https://glygen.org/publication/PubMed/21282647" } ] }, { "title": "Hydrophobic contributions to the membrane docking of synaptotagmin 7 C2A domain: mechanistic contrast between isoforms 1 and 7.", "journal": "Biochemistry", "date": "2012", "authors": "Brandt Devin S, Coffman Matthew D, Falke Joseph J, Knight Jefferson D", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "reference": [ { "type": "PubMed", "id": "22966849", "url": "https://glygen.org/publication/PubMed/22966849" } ] }, { "title": "Direct visualization of trans-synaptic neurexin-neuroligin interactions during synapse formation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2014", "authors": "Tsetsenis T, Boucard AA, Arac D, Brunger AT, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "25378172", "url": "https://glygen.org/publication/PubMed/25378172" } ] }, { "title": "Lateral diffusion of proteins on supported lipid bilayers: additive friction of synaptotagmin 7 C2A-C2B tandem domains.", "journal": "Biochemistry", "date": "2014", "authors": "Vasquez Joseph K, Chantranuvatana Kan, Giardina Daniel T, Coffman Matthew D, Knight Jefferson D", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "reference": [ { "type": "PubMed", "id": "25437758", "url": "https://glygen.org/publication/PubMed/25437758" } ] }, { "title": "Synaptotagmin-7 phosphorylation mediates GLP-1-dependent potentiation of insulin secretion from beta-cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2015", "authors": "Wu B, Wei S, Petersen N, Ali Y, Wang X, Bacaj T, Rorsman P, Hong W, Sudhof TC, Han W", "evidence": [ { "database": "iPTMnet", "id": "O43581", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43581" } ], "reference": [ { "type": "PubMed", "id": "26216970", "url": "https://glygen.org/publication/PubMed/26216970" } ] }, { "title": "Membrane docking of the synaptotagmin 7 C2A domain: electron paramagnetic resonance measurements show contributions from two membrane binding loops.", "journal": "Biochemistry", "date": "2015", "authors": "Osterberg J Ryan, Chon Nara Lee, Boo Arthur, Maynard Favinn A, Lin Hai, Knight Jefferson D", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "reference": [ { "type": "PubMed", "id": "26322740", "url": "https://glygen.org/publication/PubMed/26322740" } ] }, { "title": "Membrane docking of the synaptotagmin 7 C2A Domain: computation reveals interplay between electrostatic and hydrophobic contributions.", "journal": "Biochemistry", "date": "2015", "authors": "Chon Nara Lee, Osterberg J Ryan, Henderson Jack, Khan Hanif M, Reuter Nathalie, Knight Jefferson D, Lin Hai", "evidence": [ { "database": "UniProtKB", "id": "O43581", "url": "https://www.uniprot.org/uniprot/O43581" } ], "reference": [ { "type": "PubMed", "id": "26333120", "url": "https://glygen.org/publication/PubMed/26333120" } ] }, { "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": "O43581", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43581" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Syt-7 overexpression predicts poor prognosis and promotes cell proliferation in hepatocellular carcinoma.", "journal": "Future oncology (London, England)", "date": "2020", "authors": "Jin H, Pang Q, Fang M, Wang Y, Man Z, Tan Y, Liu H", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" } ], "reference": [ { "type": "PubMed", "id": "33052751", "url": "https://glygen.org/publication/PubMed/33052751" } ] }, { "title": "Synaptotagmin-7 deficiency induces mania-like behavioral abnormalities through attenuating GluN2B activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Wang QW, Lu SY, Liu YN, Chen Y, Wei H, Shen W, Chen YF, Fu CL, Wang YH, Dai A, Huang X, Gage FH, Xu Q, Yao J", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" } ], "reference": [ { "type": "PubMed", "id": "33229564", "url": "https://glygen.org/publication/PubMed/33229564" } ] }, { "title": "SYT7 plays a role in promoting thyroid cancer by mediating HMGB3 ubiquitination.", "journal": "Endocrine-related cancer", "date": "2022", "authors": "Dong S, Pan J, Shen YB, Zhu LX, Chen L, Zhu F, Li H, Shen HX, Xia Q, Wu YJ, Xie XJ", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" } ], "reference": [ { "type": "PubMed", "id": "35073278", "url": "https://glygen.org/publication/PubMed/35073278" } ] }, { "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": "O43581", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43581" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "SYT7 is a key player in increasing exosome secretion and promoting angiogenesis in non-small-cell lung cancer.", "journal": "Cancer letters", "date": "2023-11-28", "authors": "Liu Xiao, Li Rui, Chen Xiao, Yao Jie, Wang Qingxiang, Zhang Jinghong, Jiang Yuanyuan, Qu Yiqing", "evidence": [ { "database": "RefSeq", "id": "NP_001238994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238994" } ], "reference": [ { "type": "PubMed", "id": "37774826", "url": "https://glygen.org/publication/PubMed/37774826" } ] }, { "title": "Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.", "journal": "Neuron", "date": "1995", "authors": "Ullrich B, Ushkaryov YA, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "7695896", "url": "https://glygen.org/publication/PubMed/7695896" } ] }, { "title": "Neuroligin 1: a splice site-specific ligand for beta-neurexins.", "journal": "Cell", "date": "1995", "authors": "Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "7736595", "url": "https://glygen.org/publication/PubMed/7736595" } ] }, { "title": "Structures, alternative splicing, and neurexin binding of multiple neuroligins.", "journal": 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