{ "uniprot_canonical_ac": "O60353-1", "uniprot_ac": "O60353", "uniprot_id": "FZD6_HUMAN", "mass": { "chemical_mass": 79292.0, "monoisotopic_mass": 79292.0 }, "refseq": { "ac": "NP_001158087", "name": "frizzled-6 isoform a precursor", "summary": "This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" }, "gene_names": [ { "name": "FZD6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60353", "id": "O60353" }, { "name": "FZ-6; FZ6; HFZ6; NDNC1; NDNC10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087", "id": "NP_001158087" }, { "name": "FZD6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087", "id": "NP_001158087" }, { "name": "hCG_15041", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60353", "id": "O60353" } ], "protein_names": [ { "name": "Frizzled-6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60353" }, { "name": "Fz-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60353" }, { "name": "frizzled 6, seven transmembrane spanning receptor; seven transmembrane helix receptor; frizzled homolog 6; frizzled family receptor 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087", "id": "NP_001158087" }, { "name": "frizzled-6 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087", "id": "NP_001158087" }, { "name": "hFz6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60353" } ], "function": [ { "annotation": "A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.", "evidence": [ { "database": "RefSeq", "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" }, { "database": "PubMed", "id": "37401642", "url": "https://glygen.org/publication/PubMed/37401642" } ] }, { "annotation": "FZD6 Promotes Melanoma Cell Invasion but Not Proliferation by Regulating Canonical Wnt Signaling and Epithelial-Mesenchymal Transition.", "evidence": [ { "database": "RefSeq", "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" }, { "database": "PubMed", "id": "36368445", "url": "https://glygen.org/publication/PubMed/36368445" } ] }, { "annotation": "FZD6 triggers Wnt-signalling driven by WNT10B(IVS1) expression and highlights new targets in T-cell acute lymphoblastic leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" }, { "database": "PubMed", "id": "33497493", "url": "https://glygen.org/publication/PubMed/33497493" } ] }, { "annotation": "Frizzled 6 (HFz6) has a role as a negative regulator of the canonical Wnt. beta-catenin signaling cascade", "evidence": [ { "database": "RefSeq", "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" }, { "database": "PubMed", "id": "14747478", "url": "https://glygen.org/publication/PubMed/14747478" } ] }, { "annotation": "MiR-302b Suppresses Tumor Metastasis by Targeting Frizzled 6 in OSCC.", "evidence": [ { "database": "RefSeq", "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" }, { "database": "PubMed", "id": "33478325", "url": "https://glygen.org/publication/PubMed/33478325" } ] }, { "annotation": "Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353#function" }, { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprot/Q61089#function" } ] }, { "annotation": "This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087" } ] } ], "disease": [ { "disease_id": "DOID:0080079", "recommended_name": { "id": "DOID:0080079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080079", "name": "nonsyndromic congenital nail disorder 1", "description": "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance." }, "synonyms": [ { "id": "DOID:0080079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080079", "name": "nonsyndromic congenital nail disorder 10", "description": "" }, { "id": "DOID:0080079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080079", "name": "twenty-nail dystrophy", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder 1", "description": "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "FZD6 inherited isolated nail anomaly", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "inherited isolated nail anomaly caused by mutation in FZD6", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, type 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "onychodystrophy totalis", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "twenty-nail dystrophy", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "NDNC1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "NDNC10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "autosomal dominant nail dysplasia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "autosomal recessive nail dysplasia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "claw-Shaped nails", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "idiopathic trachyonychia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail Growth", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital 1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "onychauxis, hyponychia, and onycholysis", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "onychodystrophy totalis, isolated", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "sandpaper nails", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "trachyonychia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "twenty nail dystrophy", "description": "" }, { "id": "MIM:161050", "resource": "MIM", "url": "https://www.omim.org/entry/161050", "name": "Nail disorder, non-syndromic congenital, 1", "description": "Nail disorder, non-syndromic congenital, 1" } ], "evidence": [ { "id": "161050", "database": "MIM", "url": "https://www.omim.org/entry/161050" } ] }, { "disease_id": "DOID:0080683", "recommended_name": { "id": "DOID:0080683", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080683", "name": "nonsyndromic congenital nail disorder", "description": "A nail disease that is characterized by underdevelopment of nails." }, "synonyms": [ { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder 1", "description": "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "FZD6 inherited isolated nail anomaly", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "inherited isolated nail anomaly caused by mutation in FZD6", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, type 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "onychodystrophy totalis", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "twenty-nail dystrophy", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "NDNC1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "NDNC10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "autosomal dominant nail dysplasia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "autosomal recessive nail dysplasia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "claw-Shaped nails", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "idiopathic trachyonychia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail Growth", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital 1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 1", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 10", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "onychauxis, hyponychia, and onycholysis", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "onychodystrophy totalis, isolated", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "sandpaper nails", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "trachyonychia", "description": "" }, { "id": "MONDO:0008060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008060", "name": "twenty nail dystrophy", "description": "" }, { "id": "MIM:161050", "resource": "MIM", "url": "https://www.omim.org/entry/161050", "name": "Nail disorder, non-syndromic congenital, 1", "description": "Nail disorder, non-syndromic congenital, 1" } ], "evidence": [ { "id": "161050", "database": "MIM", "url": "https://www.omim.org/entry/161050" } ] } ], "snv": [ { "evidence": [ { "id": "rs1052086135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052086135" }, { "id": "rs1052086135", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1052086135" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 136, "end_pos": 136, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "8", "chr_pos": "103324513", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60353", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60353" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "8", "chr_pos": "103324555", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T150", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": 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"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, 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"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 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"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": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60353", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60353" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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 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"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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60353", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60353" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60353" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60353", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60353" } ], "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/O60353" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60353", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60353" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"https://www.uniprot.org/uniprot/E5RJT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJT4-1", "url": "https://www.uniprot.org/uniprot/E5RJT4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5EA13", "url": "https://www.uniprot.org/uniprot/G5EA13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5EA13-1", "url": "https://www.uniprot.org/uniprot/G5EA13-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60353-1", "url": "https://www.uniprot.org/uniprot/O60353-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60353-2", "url": "https://www.uniprot.org/uniprot/O60353-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEMFTFLLTCIFLPLLRGHSLFTCEPITVPRCMKMAYNMTFFPNLMGHYDQSIAAVEMEHFLPLANLECSPNIETFLCKAFVPTCIEQIHVVPPCRKLCEKVYSDCKKLIDTFGIRWPEELECDRLQYCDETVPVTFDPHTEFLGPQKKTEQVQRDIGFWCPRHLKTSGGQGYKFLGIDQCAPPCPNMYFKSDELEFAKSFIGTVSIFCLCATLFTFLTFLIDVRRFRYPERPIIYYSVCYSIVSLMYFIGFLLGDSTACNKADEKLELGDTVVLGSQNKACTVLFMLLYFFTMAGTVWWVILTITWFLAAGRKWSCEAIEQKAVWFHAVAWGTPGFLTVMLLAMNKVEGDNISGVCFVGLYDLDASRYFVLLPLCLCVFVGLSLLLAGIISLNHVRQVIQHDGRNQEKLKKFMIRIGVFSGLYLVPLVTLLGCYVYEQVNRITWEITWVSDHCRQYHIPCPYQAKAKARPELALFMIKYLMTLIVGISAVFWVGSKKTCTEWAGFFKRNRKRDPISESRRVLQESCEFFLKHNSKVKHKKKHYKPSSHKLKVISKSMGTSTGATANHGTSAVAITSHDYLGQETLTEIQTSPETSMREVKADGASTPRLREQDCGEPASPAASISRLSGEQVDGKGQAGSVSESARSEGRISPKSDITDTGLAQSNNLQVPSSSEPSSLKGSTSLLVHPVSGVRKEQGGGCHSDT", "length": 706, "header": "sp|O60353-1|FZD6_HUMAN Isoform 1 of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=2 CANONICAL=O60353-1" }, "isoforms": [ { "isoform_ac": "E5RGK8-1", "url": "", "sequence": { "sequence": "MEMFTFLLTCIFLPLLRGHSLFTCEPITVPRCMKMAYNMTFFPNLMGHYDQSIAAVEMEL", "length": 60, "header": "tr|E5RGK8-1|FZD6_HUMAN Computationally mapped isoform of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=1 CANONICAL=O60353-1" }, "locus": { "chromosome": "8", "start_pos": 103325056, "end_pos": 103300108, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519011.5", "url": "https://www.ensembl.org/id/ENST00000519011.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427733.1", "url": "https://www.ensembl.org/id/ENSP00000427733.1" } ] } }, { "isoform_ac": "E5RJG0-1", "url": "", "sequence": { "sequence": "MKMAYNMTFFPNLMGHYDQSIAAVEMEHFLPLANLECSPNIETFLCKAFVPTCIEQIHVVPPCRKLCEKVYSDCKKLIDTFGIRWPEELECDSCRKKMEL", "length": 100, "header": "tr|E5RJG0-1|FZD6_HUMAN Computationally mapped isoform of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=1 CANONICAL=O60353-1" }, "locus": { "chromosome": "8", "start_pos": 103325056, "end_pos": 103300204, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523933.5", "url": "https://www.ensembl.org/id/ENST00000523933.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428257.1", "url": "https://www.ensembl.org/id/ENSP00000428257.1" } ] } }, { "isoform_ac": "E5RJT4-1", "url": "", "sequence": { "sequence": "MEMFTFLLTCIFLPLLRGHSLFTCEPITVPRCMKMAYNMTFFPNLMGHYDQSIAAVEMEGTQTG", "length": 64, "header": "tr|E5RJT4-1|FZD6_HUMAN Computationally mapped isoform of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=1 CANONICAL=O60353-1" }, "locus": { "chromosome": "8", "start_pos": 103307765, "end_pos": 103300108, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521195.1", "url": "https://www.ensembl.org/id/ENST00000521195.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428188.1", "url": "https://www.ensembl.org/id/ENSP00000428188.1" } ] } }, { "isoform_ac": "G5EA13-1", "url": "", "sequence": { "sequence": "MEMFTFLLTCIFLPLLRGHSLFTCEPITVPRCMKMAYNMTFFPNLMGHYDQSIAAVEMEHFLPLANLECSPNIETFLCKAFVPTCIEQIHVVPPCRKLCEKVYSDCKKLIDTFGIRWPEELECDRLQYCDETVPVTFDPHTEFLGPQKKTEQVQRDIGFWCPRHLKTSGGQGYKFLGIDQCAPPCPNMYFKSDELEFAKSFIGTVSIFCLCATLFTFLTFLIDVRRFRYPERPIIYYSVCYSIVSLMYFIGFLLGDSTACNKADEKLELGDTVVLGSQNKACTVLFMLLYFFTMAGTVWWVILTITWFLAAGRKWSCEAIEQKAVWFHAVAWGTPGFLTVMLLAMNKVEGDNISGVCFVGLYDLDASRYFVLLPLCLCVFVGLSLLLAGIISLNHVRQVIQHDGRNQEKLKKFMIRIGVFSGLYLVPLVTLLGCYVYEQVNRITWEITWVSDHCRQYHIPCPYQSNQ", "length": 467, "header": "tr|G5EA13-1|FZD6_HUMAN Computationally mapped isoform of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=1 CANONICAL=O60353-1" }, "locus": { "chromosome": "8", "start_pos": 103329663, "end_pos": 103300108, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522484.5", "url": "https://www.ensembl.org/id/ENST00000522484.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428301.1", "url": "https://www.ensembl.org/id/ENSP00000428301.1" } ] } }, { "isoform_ac": "O60353-1", "url": "", "sequence": { "sequence": "MEMFTFLLTCIFLPLLRGHSLFTCEPITVPRCMKMAYNMTFFPNLMGHYDQSIAAVEMEHFLPLANLECSPNIETFLCKAFVPTCIEQIHVVPPCRKLCEKVYSDCKKLIDTFGIRWPEELECDRLQYCDETVPVTFDPHTEFLGPQKKTEQVQRDIGFWCPRHLKTSGGQGYKFLGIDQCAPPCPNMYFKSDELEFAKSFIGTVSIFCLCATLFTFLTFLIDVRRFRYPERPIIYYSVCYSIVSLMYFIGFLLGDSTACNKADEKLELGDTVVLGSQNKACTVLFMLLYFFTMAGTVWWVILTITWFLAAGRKWSCEAIEQKAVWFHAVAWGTPGFLTVMLLAMNKVEGDNISGVCFVGLYDLDASRYFVLLPLCLCVFVGLSLLLAGIISLNHVRQVIQHDGRNQEKLKKFMIRIGVFSGLYLVPLVTLLGCYVYEQVNRITWEITWVSDHCRQYHIPCPYQAKAKARPELALFMIKYLMTLIVGISAVFWVGSKKTCTEWAGFFKRNRKRDPISESRRVLQESCEFFLKHNSKVKHKKKHYKPSSHKLKVISKSMGTSTGATANHGTSAVAITSHDYLGQETLTEIQTSPETSMREVKADGASTPRLREQDCGEPASPAASISRLSGEQVDGKGQAGSVSESARSEGRISPKSDITDTGLAQSNNLQVPSSSEPSSLKGSTSLLVHPVSGVRKEQGGGCHSDT", "length": 706, "header": "sp|O60353-1|FZD6_HUMAN Isoform 1 of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=2 CANONICAL=O60353-1" }, "locus": { "chromosome": "8", "start_pos": 103331506, "end_pos": 103300108, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358755.5", "url": "https://www.ensembl.org/id/ENST00000358755.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000351605.4", "url": "https://www.ensembl.org/id/ENSP00000351605.4" } ] } }, { "isoform_ac": "O60353-2", "url": "", "sequence": { "sequence": "MKMAYNMTFFPNLMGHYDQSIAAVEMEHFLPLANLECSPNIETFLCKAFVPTCIEQIHVVPPCRKLCEKVYSDCKKLIDTFGIRWPEELECDRLQYCDETVPVTFDPHTEFLGPQKKTEQVQRDIGFWCPRHLKTSGGQGYKFLGIDQCAPPCPNMYFKSDELEFAKSFIGTVSIFCLCATLFTFLTFLIDVRRFRYPERPIIYYSVCYSIVSLMYFIGFLLGDSTACNKADEKLELGDTVVLGSQNKACTVLFMLLYFFTMAGTVWWVILTITWFLAAGRKWSCEAIEQKAVWFHAVAWGTPGFLTVMLLAMNKVEGDNISGVCFVGLYDLDASRYFVLLPLCLCVFVGLSLLLAGIISLNHVRQVIQHDGRNQEKLKKFMIRIGVFSGLYLVPLVTLLGCYVYEQVNRITWEITWVSDHCRQYHIPCPYQAKAKARPELALFMIKYLMTLIVGISAVFWVGSKKTCTEWAGFFKRNRKRDPISESRRVLQESCEFFLKHNSKVKHKKKHYKPSSHKLKVISKSMGTSTGATANHGTSAVAITSHDYLGQETLTEIQTSPETSMREVKADGASTPRLREQDCGEPASPAASISRLSGEQVDGKGQAGSVSESARSEGRISPKSDITDTGLAQSNNLQVPSSSEPSSLKGSTSLLVHPVSGVRKEQGGGCHSDT", "length": 674, "header": "sp|O60353-2|FZD6_HUMAN Isoform 2 of Frizzled-6 OS=Homo sapiens OX=9606 GN=FZD6 PE=1 SV=2 CANONICAL=O60353-1" }, "locus": { "chromosome": "8", "start_pos": 103331506, "end_pos": 103300204, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523739.5", "url": "https://www.ensembl.org/id/ENST00000523739.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429528.1", "url": "https://www.ensembl.org/id/ENSP00000429528.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LQYCDETVPVTFDPHTEFLGPQK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 126, "start_aa": "Leu", "end_pos": 148, "end_aa": "Lys", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "CDETVPVTFDPHTEF", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 129, "start_aa": "Cys", "end_pos": 143, "end_aa": "Phe", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Thr", "end_pos": 136, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr136", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 136, "start_aa": "Thr", "end_pos": 136, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr136", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 141, "start_aa": "Thr", "end_pos": 141, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr141", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 150, "start_aa": "Thr", "end_pos": 150, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr150", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 352, "start_aa": "Asn", "end_pos": 352, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn352", "evidence": [ { "id": "O60353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60353#ptm_processing" } ] }, { "glytoucan_ac": "G12793SR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "2042", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2042" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G52527GH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "2042", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2042" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G99679NM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "O60353", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "O60353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60353#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 585, "start_aa": "Thr", "end_pos": 585, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr585", "evidence": [ { "id": "O60353", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60353" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 587, "start_aa": "Thr", "end_pos": 587, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr587", "evidence": [ { "id": "O60353", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60353" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 606, "end_pos": 606, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": 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Commun.", "date": "1998", "authors": "Tokuhara M, Hirai M, Atomi Y, Terada M, Katoh M", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "reference": [ { "type": "PubMed", "id": "9480858", "url": "https://glygen.org/publication/PubMed/9480858" } ] }, { "title": "Dishevelled activates JNK and discriminates between JNK pathways in planar polarity and wingless signaling.", "journal": "Cell", "date": "1998", "authors": "Boutros M, Paricio N, Strutt DI, Mlodzik M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "9674432", "url": "https://glygen.org/publication/PubMed/9674432" } ] }, { "title": "Differential recruitment of Dishevelled provides signaling specificity in the planar cell polarity and Wingless signaling pathways.", "journal": "Genes & development", "date": "1998", "authors": "Axelrod JD, Miller 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "establishment of body hair planar orientation", "id": "GO:0048105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048105", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "cell proliferation in midbrain", "id": "GO:0033278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033278", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "midbrain morphogenesis", "id": "GO:1904693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904693", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "negative regulation of DNA-binding transcription factor activity", "id": "GO:0043433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043433", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "embryonic nail plate morphogenesis", "id": "GO:0035880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035880", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O60353", "url": "https://www.uniprot.org/uniprot/O60353" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "frizzled-6 N-glycosylated 1 (human)", "definition": "A frizzled-6 (human) that has been N-glycosylated at the residue equivalent to Asn-38 of the amino acid sequence represented by UniProtKB:O60353-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:O60353-1, Asn-38, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050771", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050771" } ] }, { "name": "frizzled-6 N-glycosylated 2 (human)", "definition": "A frizzled-6 (human) that has been N-glycosylated at the residue equivalent to Asn-38 of the amino acid sequence represented by UniProtKB:O60353-1, in which the glycan composition is represented by GlyTouCan:G99679NM. Example: UniProtKB:O60353-1, Asn-38, MOD:00160~GNO:G99679NM. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050772", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050772" } ] }, { "name": "frizzled-6 O-glycosylated 1 (human)", "definition": "A frizzled-6 (human) that has been O-glycosylated at the residue equivalent to Thr-136 of the amino acid sequence represented by UniProtKB:O60353-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60353-1, Thr-136, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050773", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050773" } ] }, { "name": "frizzled-6 O-glycosylated 2 (human)", "definition": "A frizzled-6 (human) that has been O-glycosylated at the residue equivalent to Thr-141 of the amino acid sequence represented by UniProtKB:O60353-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60353-1, Thr-141, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050774", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050774" } ] } ], "site_annotation": [ { "start_pos": 352, "end_pos": 354, "annotation": "n_glycosylation_sequon" }, { "start_pos": 38, "end_pos": 40, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 38, 352 ], "o_linked_sites": [ 126, 129, 136, 141, 150, 585, 587 ], "snv_sites": [ 38, 50, 136, 150, 256, 281, 352, 416, 509, 585, 641, 669 ], "glycation_sites": [], "phosphorylation_sites": [ 606, 607, 648, 653, 656, 659 ], "sequon_annotation_sites": [ { "start_pos": 352, "end_pos": 354 }, { "start_pos": 38, "end_pos": 40 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 4 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 4 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 146 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }