{ "uniprot_canonical_ac": "P11717-1", "uniprot_ac": "P11717", "uniprot_id": "MPRI_HUMAN", "mass": { "chemical_mass": 274375.0, "monoisotopic_mass": 274375.0 }, "refseq": { "ac": "NP_000867", "name": "cation-independent mannose-6-phosphate receptor precursor", "summary": "This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867" }, "gene_names": [ { "name": "IGF2R", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11717", "id": "P11717" }, { "name": "CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR 300; MPR1; MPR300; MPRI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867", "id": "NP_000867" }, { "name": "IGF2R", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867", "id": "NP_000867" }, { "name": "MPRI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11717", "id": "P11717" } ], "protein_names": [ { "name": "Cation-independent mannose-6-phosphate receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11717" }, { "name": "300 kDa mannose 6-phosphate receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "CI Man-6-P receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "CI-MPR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "IGF-II receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "Insulin-like growth factor 2 receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "Insulin-like growth factor II receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "M6P/IGF2 receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "M6P/IGF2R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "M6PR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "MPR 300", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11717" }, { "name": "cation-independent mannose-6-phosphate receptor precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867", "id": "NP_000867" }, { "name": "cation-independent mannose-6-phosphate receptor; IGF-II receptor; M6P/IGF2 receptor; CI Man-6-P receptor; 300 kDa mannose 6-phosphate receptor; insulin-like growth factor II receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867", "id": "NP_000867" } ], "function": [ { "annotation": "Imprinting of IGF2R gene in human is polymorphic, with a minority of individuals showing exclusive expression from the maternal allele.", "evidence": [ { "database": "RefSeq", "id": "NP_000867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867" }, { "database": "PubMed", "id": "8267611", "url": "https://glygen.org/publication/PubMed/8267611" } ] }, { "annotation": "Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005).", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717#function" }, { "database": "PubMed", "id": "10900005", "url": "https://glygen.org/publication/PubMed/10900005" }, { "database": "PubMed", "id": "18046459", "url": "https://glygen.org/publication/PubMed/18046459" }, { "database": "PubMed", "id": "18817523", "url": "https://glygen.org/publication/PubMed/18817523" }, { "database": "PubMed", "id": "2963003", "url": "https://glygen.org/publication/PubMed/2963003" } ] }, { "annotation": "This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs748569814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748569814" }, { "id": "rs748569814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748569814" }, { "id": "rs748569814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748569814" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1166, "end_pos": 1166, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGF); o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "160061843", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748569814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748569814" }, { "id": "rs748569814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748569814" }, { "id": "rs748569814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748569814" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1166, "end_pos": 1166, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGY); o-glyco-site-loss (S->Y).", "chr_id": "6", "chr_pos": "160061843", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769637574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769637574" }, { "id": "rs769637574", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769637574" }, { "id": "rs769637574", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769637574" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1658, "end_pos": 1658, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGR); o-glyco-site-loss (S->R).", "chr_id": "6", "chr_pos": "160073781", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1658", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562374466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562374466" }, { "id": "rs1562374466", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562374466" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2087, "end_pos": 2087, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TAS->NAS); n-glyco-sequon-loss (NKT->NKN).", "chr_id": "6", "chr_pos": "160088087", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1451373529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451373529" }, { "id": "rs1451373529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451373529#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 103, "end_pos": 103, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "6", "chr_pos": "160089226", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1337453909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337453909" }, { "id": "rs1337453909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337453909#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "160009033", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750393094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750393094" }, { "id": "rs750393094", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750393094" }, { "id": "rs750393094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750393094" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "160009034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776131275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776131275" }, { "id": "rs776131275", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776131275" }, { "id": "rs776131275", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776131275" }, { "id": "rs776131275", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776131275" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1095, "end_pos": 1095, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "6", "chr_pos": "160061523", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368203999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368203999" }, { "id": "rs368203999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368203999" }, { "id": "rs368203999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368203999#frequency_tab" }, { "id": "rs368203999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368203999" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 112, "end_pos": 112, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "6", "chr_pos": "160009055", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772046456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772046456" }, { "id": "rs772046456", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772046456" }, { "id": "rs772046456", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772046456#frequency_tab" }, { "id": "rs772046456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772046456" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 114, "end_pos": 114, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTA).", "chr_id": "6", "chr_pos": "160009060", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372480074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372480074" }, { "id": "rs372480074", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372480074" }, { "id": "rs372480074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372480074#frequency_tab" }, { "id": "rs372480074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372480074" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "160009084", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11717", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11717" }, { "id": "rs892986926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892986926" }, { "id": "rs892986926", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs892986926" }, { "id": "22722201", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22722201" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 122, "end_pos": 122, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->R).", "chr_id": "6", "chr_pos": "160009085", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T122", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": 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"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": "P11717", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11717" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11717", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11717" } ], "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 tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P11717", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11717" } ], "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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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": "P11717", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11717" } ], "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/P11717" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://pharos.nih.gov/targets/P11717", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054950", "url": "https://proconsortium.org/app/entry/PR:000054950", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054951", "url": "https://proconsortium.org/app/entry/PR:000054951", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054952", "url": "https://proconsortium.org/app/entry/PR:000054952", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054953", "url": "https://proconsortium.org/app/entry/PR:000054953", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P11717", "url": "http://purl.obolibrary.org/obo/PR_P11717", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000867", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P11717", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A7I2V381", "url": "https://www.uniprot.org/uniprot/A0A7I2V381", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V381-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V381-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V657", "url": "https://www.uniprot.org/uniprot/A0A7I2V657", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V657-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V657-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQS7", "url": "https://www.uniprot.org/uniprot/A0A7I2YQS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQS7-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQS7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11717-1", "url": "https://www.uniprot.org/uniprot/P11717-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R328", "url": "https://www.uniprot.org/uniprot/S4R328", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R328-1", "url": "https://www.uniprot.org/uniprot/S4R328-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNNVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGHQAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKLTAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYLFYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDECSSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDGKKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAVDKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGKKIKTNITLVCKPGDLESAPVLRTSGEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFYINVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLSNAKLSYYDGMIQLNYRGGTPYNNERHTPRATLITFLCDRDAGVGFPEYQEEDNSTYNFRWYTSYACPEEPLECVVTDPSTLEQYDLSSLAKSEGGLGGNWYAMDNSGEHVTWRKYYINVCRPLNPVPGCNRYASACQMKYEKDQGSFTEVVSISNLGMAKTGPVVEDSGSLLLEYVNGSACTTSDGRQTTYTTRIHLVCSRGRLNSHPIFSLNWECVVSFLWNTEAACPIQTTTDTDQACSIRDPNSGFVFNLNPLNSSQGYNVSGIGKIFMFNVCGTMPVCGTILGKPASGCEAETQTEELKNWKPARPVGIEKSLQLSTEGFITLTYKGPLSAKGTADAFIVRFVCNDDVYSGPLKFLHQDIDSGQGIRNTYFEFETALACVPSPVDCQVTDLAGNEYDLTGLSTVRKPWTAVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVGSCLVSEGNSWNLGVVQMSPQAAANGSLSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQLQDGCEYVFIWRTVEACPVVRVEGDNCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFRVCGKLSSDVCPTSDKSKVVSSCQEKREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCHKVYQRSTAIFFYCDRGTQRPVFLKETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFDLSSLSRYSDNWEAITGTGDPEHYLINVCKSLAPQAGTEPCPPEAAACLLGGSKPVNLGRVRDGPQWRDGIIVLKYVDGDLCPDGIRKKSTTIRFTCSESQVNSRPMFISAVEDCEYTFAWPTATACPMKSNEHDDCQVTNPSTGHLFDLSSLSGRAGFTAAYSEKGLVYMSICGENENCPPGVGACFGQTRISVGKANKRLRYVDQVLQLVYKDGSPCPSKSGLSYKSVISFVCRPEARPTNRPMLISLDKQTCTLFFSWHTPLACEQATECSVRNGSSIVDLSPLIHRTGGYEAYDESEDDASDTNPDFYINICQPLNPMHGVPCPAGAAVCKVPIDGPPIDIGRVAGPPILNPIANEIYLNFESSTPCLADKHFNYTSLIAFHCKRGVSMGTPKLLRTSECDFVFEWETPVVCPDEVRMDGCTLTDEQLLYSFNLSSLSTSTFKVTRDSRTYSVGVCTFAVGPEQGGCKDGGVCLLSGTKGASFGRLQSMKLDYRHQDEAVVLSYVNGDRCPPETDDGVPCVFPFIFNGKSYEECIIESRAKLWCSTTADYDRDHEWGFCRHSNSYRTSSIIFKCDEDEDIGRPQVFSEVRGCDVTFEWKTKVVCPPKKLECKFVQKHKTYDLRLLSSLTGSWSLVHNGVSYYINLCQKIYKGPLGCSERASICRRTTTGDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCGGNKTASSVIELTCTKTVGRPAFKRFDIDSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRASGDMRTNGDNYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQDGDLDVVFASSSKCGKDKTKSVSSTIFFHCDPLVEDGIPEFSHETADCQYLFSWYTSAVCPLGVGFDSENPGDDGQMHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLTTCCRRSSNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALSSLHGDDQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKARKGKSSSAQQKTVSSTKLVSFHDDSDEDLLHI", "length": 2491, "header": "sp|P11717-1|MPRI_HUMAN Isoform 1 of Cation-independent mannose-6-phosphate receptor OS=Homo sapiens OX=9606 GN=IGF2R PE=1 SV=3 CANONICAL=P11717-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V381-1", "url": "", "sequence": { "sequence": "MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNNVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGHQAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKLTAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYLFYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDECSSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDGKKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAVDKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGKKIKTNITLVCKPGDLESAPVLRTSGEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFYINVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLSNAKLSYYDGMIQLNYRGGTPYNNERHTPRATLITFLCDRDAGVGFPEYQEEDNSTYNFRWYTSYACPEEPLECVVTDPSTLEQYDLSSLAKSEGGLGGNWYAMDNSGEHVTWRKYYINVCRPLNPVPGCNRYASACQMKYEKDQGSFTEVVSISNLGMAKTGPVVEDSGSLLLEYVNGSACTTSDGRQTTYTTRIHLVCSRGRLNSHPIFSLNWECVVSFLWNTEAACPIQTTTDTDQACSIRDPNSGFVFNLNPLNSSQGYNVSGIGKIFMFNVCGTMPVCGTILGKPASGCEAETQTEELKNWKPARPVGIEKSLQLSTEGFITLTYKGPLSAKGTADAFIVRFVCNDDVYSGPLKFLHQDIDSGQGIRNTYFEFETALACVPSPVDCQVTDLAGNEYDLTGLSTVRKPWTAVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVGSCLVSEGNSWNLGVVQMSPQAAANGSLSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQLQDGCEYVFIWRTVEACPVVRVEGDNCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFRVCGKLSSDVCPTSDKSKVVSSCQEKREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCHKVYQRSTAIFFYCDRGTQRPVFLKETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFDLSSLSRYSDNWEAITGTGDPEHYLINVCKSLAPQAGTAWTWFGRETAGRRMI", "length": 1432, "header": "tr|A0A7I2V381-1|A0A7I2V381_HUMAN Computationally mapped isoform of Insulin like growth factor 2 receptor OS=Homo sapiens OX=9606 GN=IGF2R PE=1 SV=1 CANONICAL=P11717-1" }, "locus": { "chromosome": "6", "start_pos": 160068888, "end_pos": 159969247, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677704.1", "url": "https://www.ensembl.org/id/ENST00000677704.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503314.1", "url": "https://www.ensembl.org/id/ENSP00000503314.1" } ] } }, { "isoform_ac": "A0A7I2V657-1", "url": "", "sequence": { "sequence": "MHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLTTCCRRSSNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALSSLHGDDQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKARKGKSSSAQQKTVSSTKLVSFHDDSDEDLLHI", "length": 197, "header": "tr|A0A7I2V657-1|A0A7I2V657_HUMAN Computationally mapped isoform of Insulin like growth factor 2 receptor OS=Homo sapiens OX=9606 GN=IGF2R PE=1 SV=1 CANONICAL=P11717-1" }, "locus": { "chromosome": "6", "start_pos": 160105081, "end_pos": 160102559, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678224.1", "url": "https://www.ensembl.org/id/ENST00000678224.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504616.1", "url": "https://www.ensembl.org/id/ENSP00000504616.1" } ] } }, { "isoform_ac": "A0A7I2YQS7-1", "url": "", "sequence": { "sequence": "MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNNVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGHQAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKLTAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYLFYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDECSSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDGKKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAVDKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGKKIKTNITLVCKPGDLESAPVLRTSGEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFYINVCGPVSVSPCQPDSGACQVAKSA", "length": 685, "header": "tr|A0A7I2YQS7-1|MPRI_HUMAN Computationally mapped isoform of Cation-independent mannose-6-phosphate receptor OS=Homo sapiens OX=9606 GN=IGF2R PE=1 SV=1 CANONICAL=P11717-1" }, "locus": { "chromosome": "6", "start_pos": 160046895, "end_pos": 159969247, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676781.1", "url": "https://www.ensembl.org/id/ENST00000676781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504419.1", "url": "https://www.ensembl.org/id/ENSP00000504419.1" } ] } }, { "isoform_ac": "P11717-1", "url": "", "sequence": { "sequence": "MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNNVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGHQAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKLTAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYLFYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDECSSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDGKKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAVDKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGKKIKTNITLVCKPGDLESAPVLRTSGEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFYINVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLSNAKLSYYDGMIQLNYRGGTPYNNERHTPRATLITFLCDRDAGVGFPEYQEEDNSTYNFRWYTSYACPEEPLECVVTDPSTLEQYDLSSLAKSEGGLGGNWYAMDNSGEHVTWRKYYINVCRPLNPVPGCNRYASACQMKYEKDQGSFTEVVSISNLGMAKTGPVVEDSGSLLLEYVNGSACTTSDGRQTTYTTRIHLVCSRGRLNSHPIFSLNWECVVSFLWNTEAACPIQTTTDTDQACSIRDPNSGFVFNLNPLNSSQGYNVSGIGKIFMFNVCGTMPVCGTILGKPASGCEAETQTEELKNWKPARPVGIEKSLQLSTEGFITLTYKGPLSAKGTADAFIVRFVCNDDVYSGPLKFLHQDIDSGQGIRNTYFEFETALACVPSPVDCQVTDLAGNEYDLTGLSTVRKPWTAVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVGSCLVSEGNSWNLGVVQMSPQAAANGSLSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQLQDGCEYVFIWRTVEACPVVRVEGDNCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFRVCGKLSSDVCPTSDKSKVVSSCQEKREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCHKVYQRSTAIFFYCDRGTQRPVFLKETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFDLSSLSRYSDNWEAITGTGDPEHYLINVCKSLAPQAGTEPCPPEAAACLLGGSKPVNLGRVRDGPQWRDGIIVLKYVDGDLCPDGIRKKSTTIRFTCSESQVNSRPMFISAVEDCEYTFAWPTATACPMKSNEHDDCQVTNPSTGHLFDLSSLSGRAGFTAAYSEKGLVYMSICGENENCPPGVGACFGQTRISVGKANKRLRYVDQVLQLVYKDGSPCPSKSGLSYKSVISFVCRPEARPTNRPMLISLDKQTCTLFFSWHTPLACEQATECSVRNGSSIVDLSPLIHRTGGYEAYDESEDDASDTNPDFYINICQPLNPMHGVPCPAGAAVCKVPIDGPPIDIGRVAGPPILNPIANEIYLNFESSTPCLADKHFNYTSLIAFHCKRGVSMGTPKLLRTSECDFVFEWETPVVCPDEVRMDGCTLTDEQLLYSFNLSSLSTSTFKVTRDSRTYSVGVCTFAVGPEQGGCKDGGVCLLSGTKGASFGRLQSMKLDYRHQDEAVVLSYVNGDRCPPETDDGVPCVFPFIFNGKSYEECIIESRAKLWCSTTADYDRDHEWGFCRHSNSYRTSSIIFKCDEDEDIGRPQVFSEVRGCDVTFEWKTKVVCPPKKLECKFVQKHKTYDLRLLSSLTGSWSLVHNGVSYYINLCQKIYKGPLGCSERASICRRTTTGDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCGGNKTASSVIELTCTKTVGRPAFKRFDIDSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRASGDMRTNGDNYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQDGDLDVVFASSSKCGKDKTKSVSSTIFFHCDPLVEDGIPEFSHETADCQYLFSWYTSAVCPLGVGFDSENPGDDGQMHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLTTCCRRSSNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALSSLHGDDQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKARKGKSSSAQQKTVSSTKLVSFHDDSDEDLLHI", "length": 2491, "header": "sp|P11717-1|MPRI_HUMAN Isoform 1 of Cation-independent mannose-6-phosphate receptor OS=Homo sapiens OX=9606 GN=IGF2R PE=1 SV=3 CANONICAL=P11717-1" }, "locus": { "chromosome": "6", "start_pos": 160105081, "end_pos": 159969247, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356956.6", "url": "https://www.ensembl.org/id/ENST00000356956.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000349437.1", "url": "https://www.ensembl.org/id/ENSP00000349437.1" } ] } }, { "isoform_ac": "S4R328-1", "url": "", "sequence": { "sequence": "XCRRTTTGDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCGGNKTASSVIELTCTKTVGRPAFKRFDIDSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRASGDMRTNGDNYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQGNPWLPTKFHI", "length": 185, "header": "tr|S4R328-1|S4R328_HUMAN Computationally mapped isoform of Insulin like growth factor 2 receptor OS=Homo sapiens OX=9606 GN=IGF2R PE=1 SV=1 CANONICAL=P11717-1" }, "locus": { "chromosome": "6", "start_pos": 160090137, "end_pos": 160085061, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475834.2", "url": "https://www.ensembl.org/id/ENST00000475834.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000473880.1", "url": "https://www.ensembl.org/id/ENSP00000473880.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 103, "start_aa": "Ser", "end_pos": 103, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser103", "evidence": [ { "id": "P11717", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11717" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "38253038", 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Jr, Krupnick JG, Santini F, Gurevich VV, Penn RB, Gagnon AW, Keen JH, Benovic JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "8837779", "url": "https://glygen.org/publication/PubMed/8837779" } ] }, { "title": "GTP-bound forms of rab6 induce the redistribution of Golgi proteins into the endoplasmic reticulum.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Martinez O, Antony C, Pehau-Arnaudet G, Berger EG, Salamero J, Goud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "9050864", "url": "https://glygen.org/publication/PubMed/9050864" } ] }, { "title": "Synaptic vesicle endocytosis impaired by disruption of dynamin-SH3 domain interactions.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Shupliakov O, Low P, Grabs D, Gad H, Chen H, David C, Takei K, De Camilli P, Brodin L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9092476", "url": "https://glygen.org/publication/PubMed/9092476" } ] }, { "title": "Auxilin-induced interaction of the molecular chaperone Hsc70 with clathrin baskets.", "journal": "Biochemistry", "date": "1997", "authors": "Barouch W, Prasad K, Greene L, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9100026", "url": "https://glygen.org/publication/PubMed/9100026" } ] }, { "title": "Arrestin/clathrin interaction. Localization of the arrestin binding locus to the clathrin terminal domain.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Goodman OB Jr, Krupnick JG, Gurevich VV, Benovic JL, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "9169477", "url": "https://glygen.org/publication/PubMed/9169477" } ] }, { "title": "Assembly and disassembly of a ternary complex of synaptobrevin, syntaxin, and SNAP-25 in the membrane of synaptic vesicles.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Otto H, Hanson PI, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "9177194", "url": "https://glygen.org/publication/PubMed/9177194" } ] }, { 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ligand sequestration into clathrin-coated pits.", "journal": "Current biology : CB", "date": "1998", "authors": "McLauchlan H, Newell J, Morrice N, Osborne A, West M, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9427626", "url": "https://glygen.org/publication/PubMed/9427626" } ] }, { "title": "Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15.", "journal": "FEBS letters", "date": "1997", "authors": "Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9428629", "url": "https://glygen.org/publication/PubMed/9428629" } ] }, { "title": "TIP47: a cargo 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"https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle membrane", "id": "GO:0030669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "positive regulation by host of viral process", "id": "GO:0044794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044794", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "response to tetrachloromethane", "id": "GO:1904772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904772", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 11, "go_terms": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "insulin-like growth factor binding", "id": "GO:0005520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005520", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor activity", "id": "GO:0005010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005010", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "retinoic acid binding", "id": "GO:0001972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001972", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "insulin-like growth factor II binding", "id": "GO:0031995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031995", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" }, { "name": "retromer complex binding", "id": "GO:1905394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905394", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "cation-independent mannose-6-phosphate receptor N-glycosylated 1 (human)", "definition": "A cation-independent mannose-6-phosphate receptor (human) that has been N-glycosylated at the residue equivalent to Asn-112 of the amino acid sequence represented by UniProtKB:P11717-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P11717-1, Asn-112, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054950", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054950" } ] }, { "name": "cation-independent mannose-6-phosphate receptor N-glycosylated 2 (human)", "definition": "A cation-independent mannose-6-phosphate receptor (human) that has been N-glycosylated at the residue equivalent to Asn-1312 of the amino acid sequence represented by UniProtKB:P11717-1, in which the glycan composition is represented by GlyTouCan:G25079LO. Example: UniProtKB:P11717-1, Asn-1312, MOD:00160~GNO:G25079LO. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000054951", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054951" } ] }, { "name": "cation-independent mannose-6-phosphate receptor N-glycosylated 3 (human)", "definition": "A cation-independent mannose-6-phosphate receptor (human) that has been N-glycosylated at the residue equivalent to Asn-1312 of the amino acid sequence represented by UniProtKB:P11717-1, in which the glycan composition is represented by GlyTouCan:G83633GK. Example: UniProtKB:P11717-1, Asn-1312, MOD:00160~GNO:G83633GK. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000054952", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054952" } ] }, { "name": "cation-independent mannose-6-phosphate receptor O-glycosylated 1 (human)", "definition": "A cation-independent mannose-6-phosphate receptor (human) that has been O-glycosylated at the residue equivalent to Thr-770 of the amino acid sequence represented by UniProtKB:P11717-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P11717-1, Thr-770, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054953", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054953" } ] } ], "site_annotation": [ { "start_pos": 112, "end_pos": 114, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1164, "end_pos": 1166, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1246, "end_pos": 1248, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1312, "end_pos": 1314, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1656, "end_pos": 1658, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1757, "end_pos": 1759, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1816, "end_pos": 1818, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2085, "end_pos": 2087, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2136, "end_pos": 2138, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2348, "end_pos": 2350, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2365, "end_pos": 2367, "annotation": "n_glycosylation_sequon" }, { "start_pos": 400, "end_pos": 402, "annotation": "n_glycosylation_sequon" }, { "start_pos": 435, "end_pos": 437, "annotation": "n_glycosylation_sequon" }, { "start_pos": 543, "end_pos": 545, "annotation": "n_glycosylation_sequon" }, { "start_pos": 581, "end_pos": 583, "annotation": "n_glycosylation_sequon" }, { "start_pos": 626, "end_pos": 628, "annotation": "n_glycosylation_sequon" }, { "start_pos": 747, "end_pos": 749, "annotation": "n_glycosylation_sequon" }, { "start_pos": 871, "end_pos": 873, "annotation": "n_glycosylation_sequon" }, { "start_pos": 951, "end_pos": 953, "annotation": "n_glycosylation_sequon" }, { "start_pos": 957, "end_pos": 959, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Palmitoylated (PubMed:18817523). Undergoes cysteine S-palmitoylation which promotes interaction with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus (PubMed:18817523).", "evidence": [ { "database": "UniProtKB", "id": "P11717", "url": "https://www.uniprot.org/uniprot/P11717" }, { "database": "PubMed", "id": "18817523", "url": "https://glygen.org/publication/PubMed/18817523" } ] } ], "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": [ 67, 112, 210, 400, 431, 435, 440, 517, 543, 581, 626, 747, 871, 951, 957, 1164, 1246, 1312, 1656, 1757, 1816, 2085, 2136, 2141, 2348 ], "o_linked_sites": [ 99, 103, 105, 122, 428, 770, 1158, 1166, 1658, 1664 ], "snv_sites": [ 99, 103, 105, 112, 114, 122, 191, 283, 340, 387, 388, 400, 402, 435, 437, 543, 581, 626, 628, 719, 770, 779, 862, 873, 953, 957, 1095, 1166, 1246, 1248, 1264, 1314, 1348, 1365, 1477, 1491, 1560, 1656, 1658, 1662, 1677, 1746, 1757, 1759, 1816, 1818, 2085, 2087, 2110, 2348, 2473 ], "glycation_sites": [], "phosphorylation_sites": [ 1107, 1111, 1828, 1831, 2087, 2347, 2400, 2401, 2409, 2479, 2484 ], "sequon_annotation_sites": [ { "start_pos": 112, "end_pos": 114 }, { "start_pos": 1164, "end_pos": 1166 }, { "start_pos": 1246, "end_pos": 1248 }, { "start_pos": 1312, "end_pos": 1314 }, { "start_pos": 1656, "end_pos": 1658 }, { "start_pos": 1757, "end_pos": 1759 }, { "start_pos": 1816, "end_pos": 1818 }, { "start_pos": 2085, "end_pos": 2087 }, { "start_pos": 2136, "end_pos": 2138 }, { "start_pos": 2348, "end_pos": 2350 }, { "start_pos": 2365, "end_pos": 2367 }, { "start_pos": 400, "end_pos": 402 }, { "start_pos": 435, "end_pos": 437 }, { "start_pos": 543, "end_pos": 545 }, { "start_pos": 581, "end_pos": 583 }, { "start_pos": 626, "end_pos": 628 }, { "start_pos": 747, "end_pos": 749 }, { "start_pos": 871, "end_pos": 873 }, { "start_pos": 951, "end_pos": 953 }, { "start_pos": 957, "end_pos": 959 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 105 }, { "field": "total_sites", "count": 35 }, { "field": "n_linked_glycans", "count": 40 }, { "field": "n_linked_glycan_sites", "count": 37 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "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": 19 }, { "field": "total_sites", "count": 19 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 19 }, { "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": 84 }, { "field": "total_sites", "count": 26 }, { "field": "n_linked_glycans", "count": 40 }, { "field": "n_linked_glycan_sites", "count": 16 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": 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"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": 9 }, { "field": "total_sites", "count": 9 } ], "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": 50 }, { "field": "total_sites", "count": 44 } ], "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": 341 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }