{ "uniprot_canonical_ac": "O75096-1", "uniprot_ac": "O75096", "uniprot_id": "LRP4_HUMAN", "mass": { "chemical_mass": 212045.0, "monoisotopic_mass": 212045.0 }, "refseq": { "ac": "NP_002325", "name": "low-density lipoprotein receptor-related protein 4 precursor", "summary": "This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, "gene_names": [ { "name": "LRP4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75096", "id": "O75096" }, { "name": "CLSS; CMS17; LRP-4; LRP10; MEGF7; SOST2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325", "id": "NP_002325" }, { "name": "KIAA0816", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75096", "id": "O75096" }, { "name": "LRP10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75096", "id": "O75096" }, { "name": "LRP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325", "id": "NP_002325" }, { "name": "MEGF7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75096", "id": "O75096" } ], "protein_names": [ { "name": "Low-density lipoprotein receptor-related protein 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75096" }, { "name": "LRP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75096" }, { "name": "Multiple epidermal growth factor-like domains 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75096" }, { "name": "low-density lipoprotein receptor-related protein 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325", "id": "NP_002325" }, { "name": "multiple epidermal growth factor-like domains 7; low-density lipoprotein receptor-related protein 4; multiple EGF like domains 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325", "id": "NP_002325" } ], "function": [ { "annotation": "A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin.", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, { "database": "PubMed", "id": "37563890", "url": "https://glygen.org/publication/PubMed/37563890" } ] }, { "annotation": "LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, { "database": "PubMed", "id": "38101565", "url": "https://glygen.org/publication/PubMed/38101565" } ] }, { "annotation": "LRP4-related signalling pathways and their regulatory role in neurological diseases. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, { "database": "PubMed", "id": "38065285", "url": "https://glygen.org/publication/PubMed/38065285" } ] }, { "annotation": "Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096#function" }, { "database": "PubMed", "id": "20381006", "url": "https://glygen.org/publication/PubMed/20381006" }, { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprot/Q8VI56#function" }, { "database": "PubMed", "id": "21471202", "url": "https://glygen.org/publication/PubMed/21471202" } ] }, { "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, { "database": "PubMed", "id": "19079262", "url": "https://glygen.org/publication/PubMed/19079262" } ] }, { "annotation": "The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, { "database": "PubMed", "id": "37356721", "url": "https://glygen.org/publication/PubMed/37356721" } ] }, { "annotation": "The present studies suggest that LRP10 may play a significant role in the brain physiology other than lipoprotein metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" }, { "database": "PubMed", "id": "20005200", "url": "https://glygen.org/publication/PubMed/20005200" } ] }, { "annotation": "This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" } ] } ], "disease": [ { "disease_id": "DOID:0060757", "recommended_name": { "id": "DOID:0060757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060757", "name": "sclerosteosis 2", "description": "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0060757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060757", "name": "SOST2", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis 2", "description": "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "LRP4 sclerosteosis", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "SOST2", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis 2", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis caused by mutation in LRP4", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis type 2", "description": "" }, { "id": "MIM:614305", "resource": "MIM", "url": "https://www.omim.org/entry/614305", "name": "Sclerosteosis 2", "description": "Sclerosteosis 2" } ], "evidence": [ { "id": "614305", "database": "MIM", "url": "https://www.omim.org/entry/614305" } ] }, { "disease_id": "DOID:0090015", "recommended_name": { "id": "DOID:0090015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090015", "name": "Cenani-Lenz syndactyly syndrome", "description": "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0090015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090015", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "CLSS", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactylism", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz type syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly Cenani Lenz type", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly, type 7", "description": "" }, { "id": "MIM:212780", "resource": "MIM", "url": "https://www.omim.org/entry/212780", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndactyly syndrome" } ], "evidence": [ { "id": "212780", "database": "MIM", "url": "https://www.omim.org/entry/212780" } ] }, { "disease_id": "DOID:0110674", "recommended_name": { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "congenital myasthenic syndrome 17", "description": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "CMS17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome 17", "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "CMS17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "LRP4 congenital myasthenic syndrome", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome caused by mutation in LRP4", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome type 17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "myasthenic syndrome, congenital, type 17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "myasthenic syndrome, congenital, 17", "description": "" }, { "id": "MIM:616304", "resource": "MIM", "url": "https://www.omim.org/entry/616304", "name": "Myasthenic syndrome, congenital, 17", "description": "Myasthenic syndrome, congenital, 17" } ], "evidence": [ { "id": "616304", "database": "MIM", "url": "https://www.omim.org/entry/616304" } ] } ], "snv": [ { "evidence": [ { "id": "O75096", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75096" }, { "id": "rs1424972529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424972529" }, { "id": "rs1424972529", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424972529" }, { "id": "rs1424972529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424972529#frequency_tab" }, { "id": "rs1424972529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424972529" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1012, "end_pos": 1012, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "11", "chr_pos": "46879009", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1012", "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "O75096", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75096" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1023, "end_pos": 1023, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "11", "chr_pos": "46878976", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P1023", "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs201695857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201695857" }, { "id": "rs201695857", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201695857" }, { "id": "rs201695857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201695857" }, { "id": "rs201695857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201695857#frequency_tab" }, { "id": "rs201695857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201695857" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1023, "end_pos": 1023, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "11", "chr_pos": "46878976", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P1023", "disease": [ { "disease_id": "DOID:0090015", "recommended_name": { "id": "DOID:0090015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090015", "name": "Cenani-Lenz syndactyly syndrome", "description": "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0090015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090015", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "CLSS", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactylism", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz type syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly Cenani Lenz type", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly, type 7", "description": "" }, { "id": "MIM:212780", "resource": "MIM", "url": "https://www.omim.org/entry/212780", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndactyly syndrome" } ] }, { "disease_id": "DOID:0110674", "recommended_name": { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "congenital myasthenic syndrome 17", "description": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, 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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "11", "chr_pos": "46899387", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P183", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752556259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752556259" }, { "id": "rs752556259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752556259" }, { "id": "rs752556259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752556259#frequency_tab" }, { "id": "rs752556259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752556259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1858, "end_pos": 1858, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "11", "chr_pos": "46859129", 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(NVN->NVT).", "chr_id": "11", "chr_pos": "46895985", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N361", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765602909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765602909" }, { "id": "rs765602909", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765602909" }, { "id": "rs765602909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765602909#frequency_tab" }, { "id": "rs765602909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765602909" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 363, "end_pos": 363, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "11", "chr_pos": "46895980", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750371073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750371073" }, { "id": "rs750371073", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750371073" }, { "id": "rs750371073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750371073" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 498, "end_pos": 498, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->HGS).", "chr_id": "11", "chr_pos": "46894637", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N498", "disease": [ { "disease_id": "DOID:0090015", "recommended_name": { "id": "DOID:0090015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090015", "name": "Cenani-Lenz syndactyly syndrome", "description": "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0090015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090015", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "CLSS", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactylism", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz type syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly Cenani Lenz type", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly, type 7", "description": "" }, { "id": "MIM:212780", "resource": "MIM", "url": "https://www.omim.org/entry/212780", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndactyly syndrome" } ] }, { "disease_id": "DOID:0110674", "recommended_name": { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "congenital myasthenic syndrome 17", "description": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "CMS17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome 17", "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "CMS17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "LRP4 congenital myasthenic syndrome", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome caused by mutation in LRP4", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome type 17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "myasthenic syndrome, congenital, type 17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "myasthenic syndrome, congenital, 17", "description": "" }, { "id": "MIM:616304", "resource": "MIM", "url": "https://www.omim.org/entry/616304", "name": "Myasthenic syndrome, congenital, 17", "description": "Myasthenic syndrome, congenital, 17" } ] }, { "disease_id": "DOID:0060757", "recommended_name": { "id": "DOID:0060757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060757", "name": "sclerosteosis 2", "description": "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0060757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060757", "name": "SOST2", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis 2", "description": "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "LRP4 sclerosteosis", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "SOST2", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis 2", "description": "" }, { "id": "MONDO:0013679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013679", "name": "sclerosteosis 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"http://gnomad.broadinstitute.org/awesome?query=rs61749083" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 498, "end_pos": 498, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "11", "chr_pos": "46894635", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.004193", "site_lbl": "N498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1390639039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390639039" }, { "id": "rs1390639039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1390639039#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 500, "end_pos": 500, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGG).", "chr_id": "11", "chr_pos": "46894631", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753538736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753538736" }, { "id": "rs753538736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753538736" }, { "id": "rs753538736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753538736" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 500, "end_pos": 500, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGN).", "chr_id": "11", "chr_pos": "46894630", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763601999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763601999" }, { "id": "rs763601999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763601999" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 500, "end_pos": 500, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGR).", "chr_id": "11", "chr_pos": "46894629", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75096", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75096" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 577, "end_pos": 577, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NTP->NTS).", 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"ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760065771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760065771" }, { "id": "rs760065771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760065771" }, { "id": "rs760065771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760065771#frequency_tab" }, { "id": "rs760065771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760065771" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 761, "end_pos": 761, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "11", "chr_pos": "46886468", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D761", "keywords": [ "ebi", "germline" ] }, { "evidence": 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"https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndactyly syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly type 7", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "CLSS", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani syndactylism", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz syndrome", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "Cenani-Lenz type syndactyly", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly Cenani Lenz type", "description": "" }, { "id": "MONDO:0008931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008931", "name": "syndactyly, type 7", "description": "" }, { "id": "MIM:212780", "resource": "MIM", "url": "https://www.omim.org/entry/212780", "name": "Cenani-Lenz syndactyly syndrome", "description": "Cenani-Lenz syndactyly syndrome" } ] }, { "disease_id": "DOID:0110674", "recommended_name": { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "congenital myasthenic syndrome 17", "description": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11." }, "synonyms": [ { "id": "DOID:0110674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110674", "name": "CMS17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome 17", "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "CMS17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "LRP4 congenital myasthenic syndrome", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome caused by mutation in LRP4", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "congenital myasthenic syndrome type 17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "myasthenic syndrome, congenital, type 17", "description": "" }, { "id": "MONDO:0014578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014578", "name": "myasthenic syndrome, congenital, 17", "description": "" }, { "id": "MIM:616304", "resource": "MIM", "url": "https://www.omim.org/entry/616304", "name": "Myasthenic syndrome, congenital, 17", "description": "Myasthenic syndrome, congenital, 17" } ] }, { "disease_id": "DOID:0060757", "recommended_name": { "id": "DOID:0060757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060757", "name": "sclerosteosis 2", "description": "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11." 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"A", "comment": "Compromises Wnt-suppressive activity.", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" }, { "database": "PubMed", "id": "24234652", "url": "https://glygen.org/publication/PubMed/24234652" } ] }, { "start_pos": 1287, "end_pos": 1287, "sequence_org": "I", "sequence_mut": "A", "comment": "Compromises AGRN-mediated up-regulation of MUSK signaling.", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" }, { "database": "PubMed", "id": "24234652", "url": "https://glygen.org/publication/PubMed/24234652" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": 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"http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "60.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "51.98", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "69.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75096", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75096" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease 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"url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75096", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75096" } ], "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", 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"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": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "common_name": "Human" } ], "gene": [ { "name": "LRP4", "url": "https://www.uniprot.org/uniprot/O75096", "locus": { "chromosome": "11", "start_pos": 46856717, "end_pos": 46918642, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000134569", "url": "https://www.ensembl.org/id/ENSG00000134569" } ] } } ], "crossref": [ { "id": "ENSG00000134569", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134569", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75096", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75096", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00112", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00112", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "LRP4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4038", "url": "https://www.ncbi.nlm.nih.gov/gene/4038", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6696", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6696", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75096", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75096*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000033", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000033", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001881", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002172", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002172", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009030", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009030", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011042", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011042", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023415", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023415", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR026823", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026823", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036055", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036055", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4038", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4038", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "212780", "url": "http://www.omim.org/entry/212780", "database": "MIM", "categories": [ "Other" ] }, { "id": "604270", "url": "http://www.omim.org/entry/604270", "database": "MIM", "categories": [ "Other" ] }, { "id": "614305", "url": "http://www.omim.org/entry/614305", "database": "MIM", "categories": [ "Other" ] }, { "id": "616304", "url": "http://www.omim.org/entry/616304", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75096", "url": "https://www.nextprot.org/entry/NX_O75096", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75096", "url": "https://oglcnac.org/atlas/detail/O75096", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75096", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75096", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NNRYTAI", "url": "https://omabrowser.org/oma/group/NNRYTAI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3107655at2759", "url": "http://www.orthodb.org/?query=3107655at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22722", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22722", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "8S9P", "url": "https://www.rcsb.org/structure/8S9P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00057", "url": "http://pfam.xfam.org/family/PF00057", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00058", "url": "http://pfam.xfam.org/family/PF00058", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12662", "url": "http://pfam.xfam.org/family/PF12662", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14670", "url": "http://pfam.xfam.org/family/PF14670", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75096", "url": "https://pharos.nih.gov/targets/O75096", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050817", "url": "https://proconsortium.org/app/entry/PR:000050817", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050818", "url": "https://proconsortium.org/app/entry/PR:000050818", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O75096", "url": "http://purl.obolibrary.org/obo/PR_O75096", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75096", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E9PNJ5", "url": "https://www.uniprot.org/uniprot/E9PNJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNJ5-1", "url": "https://www.uniprot.org/uniprot/E9PNJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75096-1", "url": "https://www.uniprot.org/uniprot/O75096-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDHSDEDGCILPTCSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSDEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPSAVPAPPCNLEEFQCAYGRCILDIYHCDGDDDCGDWSDESDCSSHQPCRSGEFMCDSGLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSDEENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCRPRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWCETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYWTDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWPNGLTIDYAGRRMYWVDAKHHVIERANLDGSHRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNYTCACPTGFRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLADVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVTNKLYWTDAGTDRIEVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISSNLTWPNGLAIDYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLTGLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFSCTCPTGINLLSDGKTCSPGMNSFLIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQTTDGLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGSDRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTLLDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPRPSGFSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGRGLKTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERANLDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIESADLNGKLRQVLVSHVSHPFALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVNNGGCTHLCFARASDFVCACPDEPDSRPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLYSSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYAIGGLLSILLILVVIAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDHNYTKEKIKIVEGICLLSGDDAEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSSVHTAATPERRGSLPDTGWKHERKLSSESQV", "length": 1905, "header": "sp|O75096-1|LRP4_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 4 OS=Homo sapiens OX=9606 GN=LRP4 PE=1 SV=4 CANONICAL=O75096-1" }, "isoforms": [ { "isoform_ac": "E9PNJ5-1", "url": "", "sequence": { "sequence": "MRRQWGALLLGALLCAHVLPTCSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSDEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENC", "length": 133, "header": "tr|E9PNJ5-1|E9PNJ5_HUMAN Computationally mapped isoform of LDL receptor related protein 4 OS=Homo sapiens OX=9606 GN=LRP4 PE=1 SV=1 CANONICAL=O75096-1" }, "locus": { "chromosome": "11", "start_pos": 46918379, "end_pos": 46899388, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534404.1", "url": "https://www.ensembl.org/id/ENST00000534404.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434763.1", "url": "https://www.ensembl.org/id/ENSP00000434763.1" } ] } }, { "isoform_ac": "O75096-1", "url": "", "sequence": { "sequence": "MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDHSDEDGCILPTCSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSDEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPSAVPAPPCNLEEFQCAYGRCILDIYHCDGDDDCGDWSDESDCSSHQPCRSGEFMCDSGLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSDEENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCRPRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWCETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYWTDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWPNGLTIDYAGRRMYWVDAKHHVIERANLDGSHRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNYTCACPTGFRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLADVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVTNKLYWTDAGTDRIEVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISSNLTWPNGLAIDYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLTGLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFSCTCPTGINLLSDGKTCSPGMNSFLIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQTTDGLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGSDRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTLLDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPRPSGFSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGRGLKTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERANLDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIESADLNGKLRQVLVSHVSHPFALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVNNGGCTHLCFARASDFVCACPDEPDSRPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLYSSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYAIGGLLSILLILVVIAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDHNYTKEKIKIVEGICLLSGDDAEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSSVHTAATPERRGSLPDTGWKHERKLSSESQV", "length": 1905, "header": "sp|O75096-1|LRP4_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 4 OS=Homo sapiens OX=9606 GN=LRP4 PE=1 SV=4 CANONICAL=O75096-1" }, "locus": { "chromosome": "11", "start_pos": 46918379, "end_pos": 46858986, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378623.6", "url": "https://www.ensembl.org/id/ENST00000378623.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000367888.1", "url": "https://www.ensembl.org/id/ENSP00000367888.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1077, "start_aa": "Asn", "end_pos": 1077, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1077", "evidence": [ { "id": "O75096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75096#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1415, "start_aa": "Asn", "end_pos": 1415, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1415", "evidence": [ { "id": "O75096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75096#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1418, "start_aa": "Asn", "end_pos": 1418, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1418", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1467, "start_aa": "Asn", "end_pos": 1467, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1467", "evidence": [ { "id": "O75096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75096#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1468, "start_aa": "Asn", "end_pos": 1468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1468", "evidence": [ { "id": "24190977", "database": "PubMed", "url": 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"Thr", "site_lbl": "Thr1688", "evidence": [ { "id": "O75096", "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": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1689, "start_aa": "Ser", "end_pos": 1689, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1689", "evidence": [ { "id": "O75096", "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": "", 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derived from fibronectin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Pytela R, Pierschbacher MD, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2412224", "url": "https://glygen.org/publication/PubMed/2412224" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Platelet membrane glycoprotein IIb/IIIa: member of a family of 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"title": "Interaction of vitronectin with collagen.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Gebb C, Hayman EG, Engvall E, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2430969", "url": "https://glygen.org/publication/PubMed/2430969" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75096", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75096" }, { "database": "O-GlcNAc Atlas", "id": "O75096", "url": "https://oglcnac.org/atlas/detail/O75096" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O75096", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.", "journal": "The Journal of biological chemistry", "date": "2023-08", "authors": "Uyen Dao Thi Minh, Barbeau Susie, Mess\u00e9ant Julien, Della-Gaspera Bruno, Bouceba Tahar, Semprez Fannie, Legay Claire, Dobbertin Alexandre", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" } ], "reference": [ { "type": "PubMed", "id": "37356721", "url": "https://glygen.org/publication/PubMed/37356721" } ] }, { "title": "A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin.", "journal": "Congenital anomalies", "date": "2023-08-10", "authors": "Khan Hammal, Ullah Kifayat, Jan Abid, Ali Hamid, Ullah Imran, Ahmad Wasim", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" } ], "reference": [ { "type": "PubMed", "id": "37563890", "url": "https://glygen.org/publication/PubMed/37563890" } ] }, { "title": "LRP4-related signalling pathways and their regulatory role in neurological diseases.", "journal": "Brain research", "date": "2023-12-06", "authors": "Chen Bai-Hui, Lin Ze-Yu, Zeng Xiao-Xue, Jiang Yi-Han, Geng Fei", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" } ], "reference": [ { "type": "PubMed", "id": "38065285", "url": "https://glygen.org/publication/PubMed/38065285" } ] }, { "title": "LRP4 site-specific variants in the third \u03b2-propeller domain causes congenital myasthenic syndrome type 17.", "journal": "European journal of medical genetics", "date": "2023-12-13", "authors": "Al Jabry Tariq, Al-Hashmi Nadia, Abdelhadi Basem, Al-Maawali Almundher", "evidence": [ { "database": "RefSeq", "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325" } ], "reference": [ { "type": "PubMed", "id": "38101565", "url": "https://glygen.org/publication/PubMed/38101565" } ] }, { "title": "Cartilage proteoglycan binding region and link protein. Radioimmunoassays and the detection of masked determinants in aggregates.", "journal": "The Biochemical journal", "date": "1983", "authors": "Ratcliffe A, Hardingham T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6193777", "url": "https://glygen.org/publication/PubMed/6193777" } ] }, { "title": "Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon.", "journal": "The Biochemical journal", "date": "1984", "authors": "Vogel KG, Paulsson M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6439184", "url": "https://glygen.org/publication/PubMed/6439184" } ] }, { "title": "Binding of tenascin-C to soluble fibronectin and matrix fibrils.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Chung CY, Zardi L, Erickson HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7499434", "url": "https://glygen.org/publication/PubMed/7499434" } ] }, { "title": "Tenascin-R (J1 160/180 inhibits fibronectin-mediated cell adhesion--functional relatedness to tenascin-C.", "journal": "Journal of cell science", "date": "1994", "authors": "Pesheva P, Probstmeier R, Skubitz AP, McCarthy JB, Furcht LT, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7527058", "url": "https://glygen.org/publication/PubMed/7527058" } ] }, { "title": "Alpha v beta 1 is a receptor for vitronectin and fibrinogen, and acts with alpha 5 beta 1 to mediate spreading on fibronectin.", "journal": "Journal of cell science", "date": "1995", "authors": "Marshall JF, Rutherford DC, McCartney AC, Mitjans F, Goodman SL, Hart IR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7542669", "url": "https://glygen.org/publication/PubMed/7542669" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Panetti TS, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7685013", "url": "https://glygen.org/publication/PubMed/7685013" } ] }, { "title": "Endothelial cell attachment and spreading on human tenascin is mediated by alpha 2 beta 1 and alpha v beta 3 integrins.", "journal": "Journal of cell science", "date": "1993", "authors": "Sriramarao P, Mendler M, Bourdon MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7693733", "url": "https://glygen.org/publication/PubMed/7693733" } ] }, { "title": "Interaction of biglycan with type I collagen.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schonherr E, Witsch-Prehm P, Harrach B, Robenek H, Rauterberg J, Kresse H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7852349", "url": "https://glygen.org/publication/PubMed/7852349" } ] }, { "title": "The expression of functional link protein in a baculovirus system: analysis of mutants lacking the A, B and B' domains.", "journal": "The Biochemical journal", "date": "1994", "authors": "Grover J, Roughley PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8002934", "url": "https://glygen.org/publication/PubMed/8002934" } ] }, { "title": "Interaction of heparin cofactor II with biglycan and decorin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Whinna HC, Choi HU, Rosenberg LC, Church FC", "evidence": [ { "database": "Reactome", "id": 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Roles of the beta subunit extracellular and cytoplasmic domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Yokosaki Y, Monis H, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8798654", "url": "https://glygen.org/publication/PubMed/8798654" } ] }, { "title": "Interaction of cartilage matrix protein with aggrecan. Increased covalent cross-linking with tissue maturation.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Hauser N, Paulsson M, Heinegard D, Morgelin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8943283", "url": "https://glygen.org/publication/PubMed/8943283" } ] }, { "title": "Localization of a binding site for the proteoglycan decorin on collagen XIV (undulin).", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ehnis T, Dieterich W, Bauer M, Kresse H, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9252349", "url": "https://glygen.org/publication/PubMed/9252349" } ] }, { "title": "The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Aspberg A, Miura R, Bourdoulous S, Shimonaka M, Heinegard D, Schachner M, Ruoslahti E, Yamaguchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9294172", "url": "https://glygen.org/publication/PubMed/9294172" } ] }, { "title": "Mapping of a defined neurocan binding site to distinct domains of tenascin-C.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Rauch U, Clement A, Retzler C, Frohlich L, Fassler R, Gohring W, Faissner A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9341124", "url": "https://glygen.org/publication/PubMed/9341124" } ] }, { "title": "Identification of hyaluronan-binding domains of aggrecan.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Watanabe H, Cheung SC, Itano N, Kimata K, Yamada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9346959", "url": "https://glygen.org/publication/PubMed/9346959" } ] }, { "title": "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rosenberg K, Olsson H, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9685393", "url": "https://glygen.org/publication/PubMed/9685393" } ] }, { "title": "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening.", "journal": "Genomics", "date": "1998", "authors": "Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "reference": [ { "type": "PubMed", "id": "9693030", "url": "https://glygen.org/publication/PubMed/9693030" } ] }, { "title": "Tenascin-C inhibits beta1 integrin-dependent cell adhesion and neurite outgrowth on fibronectin by a disialoganglioside-mediated signaling mechanism.", "journal": "Glycobiology", "date": "1999", "authors": "Probstmeier R, Pesheva P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9949188", "url": "https://glygen.org/publication/PubMed/9949188" } ] } 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"length": 1905 }, "evidence": [ { "id": "45928440", "url": "http://www.informatics.jax.org/homology/45928440", "database": "MGI" }, { "id": "O75096", "url": "https://omabrowser.org/oma/group/O75096/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VXM0-1", "protein_name": "LDL receptor related protein 4, isoform B", "gene_name": "Lrp4", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": 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"length": 2009 }, "evidence": [ { "id": "O75096", "url": "https://omabrowser.org/oma/group/O75096/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 25, "go_terms": [ { "name": "postsynaptic membrane assembly", "id": "GO:0097104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097104", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle acetylcholine-gated channel clustering", "id": "GO:1904395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904395", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "positive regulation of presynaptic membrane organization", "id": "GO:1901631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901631", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "skeletal muscle acetylcholine-gated channel clustering", "id": "GO:0071340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071340", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "presynaptic membrane assembly", "id": "GO:0097105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097105", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "O75096", "url": "https://www.uniprot.org/uniprot/O75096" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "low-density lipoprotein receptor-related protein 4 O-glycosylated 1 (human)", "definition": "A low-density lipoprotein receptor-related protein 4 (human) that has been O-glycosylated at the residue equivalent to Ser-184 of the amino acid sequence represented by UniProtKB:O75096-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75096-1, Ser-184, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050817", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050817" } ] }, { "name": "low-density lipoprotein receptor-related protein 4 O-glycosylated 2 (human)", "definition": "A low-density lipoprotein receptor-related protein 4 (human) that has been O-glycosylated at the residue equivalent to Thr-70 of the amino acid sequence represented by UniProtKB:O75096-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75096-1, Thr-70, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050818", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050818" } ] } ], "site_annotation": [ { "start_pos": 1077, "end_pos": 1079, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1415, "end_pos": 1417, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1467, "end_pos": 1469, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1761, "end_pos": 1763, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1801, "end_pos": 1803, "annotation": "n_glycosylation_sequon" }, { "start_pos": 264, "end_pos": 266, "annotation": "n_glycosylation_sequon" }, { "start_pos": 498, "end_pos": 500, "annotation": "n_glycosylation_sequon" }, { "start_pos": 719, "end_pos": 721, "annotation": "n_glycosylation_sequon" }, { "start_pos": 901, "end_pos": 903, "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": [ 264, 498, 719, 901, 1077, 1415, 1418, 1467, 1468 ], "o_linked_sites": [ 70, 184, 604, 1686, 1688, 1689 ], "snv_sites": [ 70, 137, 183, 266, 323, 342, 361, 363, 498, 500, 577, 585, 590, 666, 721, 761, 796, 903, 1012, 1023, 1079, 1111, 1319, 1417, 1467, 1469, 1590, 1688, 1713, 1753, 1858 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1077, "end_pos": 1079 }, { "start_pos": 1415, "end_pos": 1417 }, { "start_pos": 1467, "end_pos": 1469 }, { "start_pos": 1761, "end_pos": 1763 }, { "start_pos": 1801, "end_pos": 1803 }, { "start_pos": 264, "end_pos": 266 }, { "start_pos": 498, "end_pos": 500 }, { "start_pos": 719, "end_pos": 721 }, { "start_pos": 901, "end_pos": 903 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 38 }, { "field": "total_sites", "count": 31 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 25 }, { "field": "total_sites", "count": 21 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 57 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }