{ "uniprot_canonical_ac": "O15230-1", "uniprot_ac": "O15230", "uniprot_id": "LAMA5_HUMAN", "mass": { "chemical_mass": 399737.0, "monoisotopic_mass": 399737.0 }, "refseq": { "ac": "NP_005551", "name": "laminin subunit alpha-5 precursor", "summary": "This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" }, "gene_names": [ { "name": "LAMA5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15230", "id": "O15230" }, { "name": "BBDS2; NPHS26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551", "id": "NP_005551" }, { "name": "KIAA0533", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15230", "id": "O15230" }, { "name": "KIAA1907", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15230", "id": "O15230" }, { "name": "LAMA5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551", "id": "NP_005551" } ], "protein_names": [ { "name": "Laminin subunit alpha-5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15230" }, { "name": "Laminin-10 subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15230" }, { "name": "Laminin-11 subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15230" }, { "name": "Laminin-15 subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15230" }, { "name": "laminin alpha-5 chain; laminin-10 subunit alpha; laminin-11 subunit alpha; laminin-15 subunit alpha; laminin alpha5-chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551", "id": "NP_005551" }, { "name": "laminin subunit alpha-5 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551", "id": "NP_005551" } ], "function": [ { "annotation": "A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" }, { "database": "PubMed", "id": "36173685", "url": "https://glygen.org/publication/PubMed/36173685" } ] }, { "annotation": "Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.", "evidence": [ { "database": "RefSeq", "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" }, { "database": "PubMed", "id": "33242826", "url": "https://glygen.org/publication/PubMed/33242826" } ] }, { "annotation": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2 (PubMed:33242826).", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230#function" }, { "database": "PubMed", "id": "33242826", "url": "https://glygen.org/publication/PubMed/33242826" } ] }, { "annotation": "Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" }, { "database": "PubMed", "id": "35419533", "url": "https://glygen.org/publication/PubMed/35419533" } ] }, { "annotation": "Laminin 511 and WNT signalling sustain prolonged expansion of hiPSC-derived hippocampal progenitors.", "evidence": [ { "database": "RefSeq", "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" }, { "database": "PubMed", "id": "35993299", "url": "https://glygen.org/publication/PubMed/35993299" } ] }, { "annotation": "Regulation and Function of Laminin A5 during Mouse and Human Decidualization. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" }, { "database": "PubMed", "id": "35008625", "url": "https://glygen.org/publication/PubMed/35008625" } ] }, { "annotation": "This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551" } ] } ], "disease": [ { "disease_id": "MONDO:0031061", "recommended_name": { "id": "MONDO:0031061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031061", "name": "nephrotic syndrome, IIa 26", "description": "" }, "synonyms": [ { "id": "MONDO:0031061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031061", "name": "NPHS26", "description": "" }, { "id": "MONDO:0031061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031061", "name": "nephrotic syndrome, IIa 26", "description": "" }, { "id": "MIM:620049", "resource": "MIM", "url": "https://www.omim.org/entry/620049", "name": "Nephrotic syndrome 26", "description": "Nephrotic syndrome 26" } ], "evidence": [ { "id": "620049", "database": "MIM", "url": "https://www.omim.org/entry/620049" } ] }, { "disease_id": "MONDO:0859573", "recommended_name": { "id": "MONDO:0859573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859573", "name": "bent bone dysplasia syndrome 2", "description": "" }, "synonyms": [ { "id": "MIM:620076", "resource": "MIM", "url": "https://www.omim.org/entry/620076", "name": "Bent bone dysplasia syndrome 2", "description": "Bent bone dysplasia syndrome 2" } ], "evidence": [ { "id": "620076", "database": "MIM", "url": "https://www.omim.org/entry/620076" } ] } ], "snv": [ { "evidence": [ { "id": "rs1279809628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1279809628" }, { "id": "rs1279809628", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1279809628#frequency_tab" }, { "id": "rs1279809628", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1279809628" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2021, "end_pos": 2021, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCI); o-glyco-site-loss (T->I).", "chr_id": "20", "chr_pos": "62323458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1472560613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472560613" }, { "id": "rs1472560613", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472560613#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2211, "end_pos": 2211, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC); o-glyco-site-loss (S->C).", "chr_id": "20", "chr_pos": "62320755", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15230", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15230" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2211, "end_pos": 2211, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->NAF); o-glyco-site-loss (S->F).", "chr_id": "20", "chr_pos": "62320755", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2211", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15230" } ], "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 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"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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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15230" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15230" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15230" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "common_name": "Human" } ], "gene": [ { "name": "LAMA5", "url": "https://www.uniprot.org/uniprot/O15230", "locus": { "chromosome": "20", "start_pos": 62307955, "end_pos": 62367312, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000130702", "url": "https://www.ensembl.org/id/ENSG00000130702" } ] } } ], "crossref": [ { "id": "ENSG00000130702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130702", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15230", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15230", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00055", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00055", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00110", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00110", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2364187", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2364187", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "LAMA5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMA5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3911", "url": "https://www.ncbi.nlm.nih.gov/gene/3911", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1441", "url": "https://glyconnect.expasy.org/browser/proteins/1441", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "6485", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6485", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A0A087WYH7", "url": "https://www.ebi.ac.uk/intact/interactors/id:A0A087WYH7*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O15230", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15230*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001368", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001368", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001791", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001791", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002049", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002049", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008211", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008211", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009254", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009254", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010307", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010307", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013320", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3911", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3911", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601033", "url": "http://www.omim.org/entry/601033", "database": "MIM", "categories": [ "Other" ] }, { "id": "620049", "url": "http://www.omim.org/entry/620049", "database": "MIM", "categories": [ "Other" ] }, { "id": "620076", "url": "http://www.omim.org/entry/620076", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15230", "url": "https://www.nextprot.org/entry/NX_O15230", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15230", "url": "https://oglcnac.org/atlas/detail/O15230", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15230", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15230", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ISHCAAH", "url": "https://omabrowser.org/oma/group/ISHCAAH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "90222at2759", "url": "http://www.orthodb.org/?query=90222at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10574", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10574", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10574:SF261", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10574:SF261", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5XAU", "url": "https://www.rcsb.org/structure/5XAU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CEC", "url": "https://www.rcsb.org/structure/7CEC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00052", "url": "http://pfam.xfam.org/family/PF00052", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00053", "url": "http://pfam.xfam.org/family/PF00053", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00054", "url": "http://pfam.xfam.org/family/PF00054", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00055", "url": "http://pfam.xfam.org/family/PF00055", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02210", "url": "http://pfam.xfam.org/family/PF02210", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06008", "url": "http://pfam.xfam.org/family/PF06008", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06009", "url": "http://pfam.xfam.org/family/PF06009", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15230", "url": "https://pharos.nih.gov/targets/O15230", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050722", "url": "https://proconsortium.org/app/entry/PR:000050722", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O15230", "url": "http://purl.obolibrary.org/obo/PR_O15230", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O15230", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A087WYH7", "url": "https://www.uniprot.org/uniprot/A0A087WYH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYH7-1", "url": "https://www.uniprot.org/uniprot/A0A087WYH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5J6", "url": "https://www.uniprot.org/uniprot/H7C5J6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5J6-1", "url": "https://www.uniprot.org/uniprot/H7C5J6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15230-1", "url": "https://www.uniprot.org/uniprot/O15230-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15230-2", "url": "https://www.uniprot.org/uniprot/O15230-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAASATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRGQYCDICTAANSNKAHPASNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGRTYQPWQFFASSKRDCLERFGPQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPGAMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLPGFYRSPNHPLDSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSNDTREQVLPAGQIVNCDCSAAGTQGNACRKDPRVGRCLCKPNFQGTHCELCAPGFYGPGCQPCQCSSPGVADDRCDPDTGQCRCRVGFEGATCDRCAPGYFHFPLCQLCGCSPAGTLPEGCDEAGRCLCQPEFAGPHCDRCRPGYHGFPNCQACTCDPRGALDQLCGAGGLCRCRPGYTGTACQECSPGFHGFPSCVPCHCSAEGSLHAACDPRSGQCSCRPRVTGLRCDTCVPGAYNFPYCEAGSCHPAGLAPVDPALPEAQVPCMCRAHVEGPSCDRCKPGFWGLSPSNPEGCTRCSCDLRGTLGGVAECQPGTGQCFCKPHVCGQACASCKDGFFGLDQADYFGCRSCRCDIGGALGQSCEPRTGVCRCRPNTQGPTCSEPARDHYLPDLHHLRLELEEAATPEGHAVRFGFNPLEFENFSWRGYAQMAPVQPRIVARLNLTSPDLFWLVFRYVNRGAMSVSGRVSVREEGRSATCANCTAQSQPVAFPPSTEPAFITVPQRGFGEPFVLNPGTWALRVEAEGVLLDYVVLLPSAYYEAALLQLRVTEACTYRPSAQQSGDNCLLYTHLPLDGFPSAAGLEALCRQDNSLPRPCPTEQLSPSHPPLITCTGSDVDVQLQVAVPQPGRYALVVEYANEDARQEVGVAVHTPQRAPQQGLLSLHPCLYSTLCRGTARDTQDHLAVFHLDSEASVRLTAEQARFFLHGVTLVPIEEFSPEFVEPRVSCISSHGAFGPNSAACLPSRFPKPPQPIILRDCQVIPLPPGLPLTHAQDLTPAMSPAGPRPRPPTAVDPDAEPTLLREPQATVVFTTHVPTLGRYAFLLHGYQPAHPTFPVEVLINAGRVWQGHANASFCPHGYGCRTLVVCEGQALLDVTHSELTVTVRVPKGRWLWLDYVLVVPENVYSFGYLREEPLDKSYDFISHCAAQGYHISPSSSSLFCRNAAASLSLFYNNGARPCGCHEVGATGPTCEPFGGQCPCHAHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCICPPRTIPPDCLLCQPQTFGCHPLVGCEECNCSGPGIQELTDPTCDTDSGQCKCRPNVTGRRCDTCSPGFHGYPRCRPCDCHEAGTAPGVCDPLTGQCYCKENVQGPKCDQCSLGTFSLDAANPKGCTRCFCFGATERCRSSSYTRQEFVDMEGWVLLSTDRQVVPHERQPGTEMLRADLRHVPEAVPEAFPELYWQAPPSYLGDRVSSYGGTLRYELHSETQRGDVFVPMESRPDVVLQGNQMSITFLEPAYPTPGHVHRGQLQLVEGNFRHTETRNTVSREELMMVLASLEQLQIRALFSQISSAVFLRRVALEVASPAGQGALASNVELCLCPASYRGDSCQECAPGFYRDVKGLFLGRCVPCQCHGHSDRCLPGSGVCVDCQHNTEGAHCERCQAGFVSSRDDPSAPCVSCPCPLSVPSNNFAEGCVLRGGRTQCLCKPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNLLFSDCDPLTGACRGCLRHTTGPRCEICAPGFYGNALLPGNCTRCDCTPCGTEACDPHSGHCLCKAGVTGRRCDRCQEGHFGFDGCGGCRPCACGPAAEGSECHPQSGQCHCRPGTMGPQCRECAPGYWGLPEQGCRRCQCPGGRCDPHTGRCNCPPGLSGERCDTCSQQHQVPVPGGPVGHSIHCEVCDHCVVLLLDDLERAGALLPAIHEQLRGINASSMAWARLHRLNASIADLQSQLRSPLGPRHETAQQLEVLEQQSTSLGQDARRLGGQAVGTRDQASQLLAGTEATLGHAKTLLAAIRAVDRTLSELMSQTGHLGLANASAPSGEQLLRTLAEVERLLWEMRARDLGAPQAAAEAELAAAQRLLARVQEQLSSLWEENQALATQTRDRLAQHEAGLMDLREALNRAVDATREAQELNSRNQERLEEALQRKQELSRDNATLQATLHAARDTLASVFRLLHSLDQAKEELERLAASLDGARTPLLQRMQTFSPAGSKLRLVEAAEAHAQQLGQLALNLSSIILDVNQDRLTQRAIEASNAYSRILQAVQAAEDAAGQALQQADHTWATVVRQGLVDRAQQLLANSTALEEAMLQEQQRLGLVWAALQGARTQLRDVRAKKDQLEAHIQAAQAMLAMDTDETSKKIAHAKAVAAEAQDTATRVQSQLQAMQENVERWQGQYEGLRGQDLGQAVLDAGHSVSTLEKTLPQLLAKLSILENRGVHNASLALSASIGRVRELIAQARGAASKVKVPMKFNGRSGVQLRTPRDLADLAAYTALKFYLQGPEPEPGQGTEDRFVMYMGSRQATGDYMGVSLRDKKVHWVYQLGEAGPAVLSIDEDIGEQFAAVSLDRTLQFGHMSVTVERQMIQETKGDTVAPGAEGLLNLRPDDFVFYVGGYPSTFTPPPLLRFPGYRGCIEMDTLNEEVVSLYNFERTFQLDTAVDRPCARSKSTGDPWLTDGSYLDGTGFARISFDSQISTTKRFEQELRLVSYSGVLFFLKQQSQFLCLAVQEGSLVLLYDFGAGLKKAVPLQPPPPLTSASKAIQVFLLGGSRKRVLVRVERATVYSVEQDNDLELADAYYLGGVPPDQLPPSLRRLFPTGGSVRGCVKGIKALGKYVDLKRLNTTGVSAGCTADLLVGRAMTFHGHGFLRLALSNVAPLTGNVYSGFGFHSAQDSALLYYRASPDGLCQVSLQQGRVSLQLLRTEVKTQAGFADGAPHYVAFYSNATGVWLYVDDQLQQMKPHRGPPPELQPQPEGPPRLLLGGLPESGTIYNFSGCISNVFVQRLLGPQRVFDLQQNLGSVNVSTGCAPALQAQTPGLGPRGLQATARKASRRSRQPARHPACMLPPHLRTTRDSYQFGGSLSSHLEFVGILARHRNWPSLSMHVLPRSSRGLLLFTARLRPGSPSLALFLSNGHFVAQMEGLGTRLRAQSRQRSRPGRWHKVSVRWEKNRILLVTDGARAWSQEGPHRQHQGAEHPQPHTLFVGGLPASSHSSKLPVTVGFSGCVKRLRLHGRPLGAPTRMAGVTPCILGPLEAGLFFPGSGGVITLDLPGATLPDVGLELEVRPLAVTGLIFHLGQARTPPYLQLQVTEKQVLLRADDGAGEFSTSVTRPSVLCDGQWHRLAVMKSGNVLRLEVDAQSNHTVGPLLAAAAGAPAPLYLGGLPEPMAVQPWPPAYCGCMRRLAVNRSPVAMTRSVEVHGAVGASGCPAA", "length": 3695, "header": "sp|O15230-1|LAMA5_HUMAN Isoform 1 of Laminin subunit alpha-5 OS=Homo sapiens OX=9606 GN=LAMA5 PE=1 SV=8 CANONICAL=O15230-1" }, "isoforms": [ { "isoform_ac": "A0A087WYH7-1", "url": "", "sequence": { "sequence": "RLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADACDAKDPTDPFSSPNLSGHNRQLPCCPSPDLHSSQAGTKAQDGDGRVGAANTPHLLCPVCLLSGAAEGTAEHPPPGSPSQDGQQPWCWHRHIPGPHPESSVRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLP", "length": 241, "header": "tr|A0A087WYH7-1|LAMA5_HUMAN Computationally mapped isoform of Laminin subunit alpha-5 OS=Homo sapiens OX=9606 GN=LAMA5 PE=1 SV=1 CANONICAL=O15230-1" }, "locus": { "chromosome": "20", "start_pos": 62351989, "end_pos": 62346558, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497053.2", "url": "https://www.ensembl.org/id/ENST00000497053.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481814.1", "url": "https://www.ensembl.org/id/ENSP00000481814.1" } ] } }, { "isoform_ac": "H7C5J6-1", "url": "", "sequence": { "sequence": "CVPGAYNFPYCEGAVWWDGTSVAAEGAGRCVFSGRPCG", "length": 38, "header": "tr|H7C5J6-1|LAMA5_HUMAN Computationally mapped isoform of Laminin subunit alpha-5 OS=Homo sapiens OX=9606 GN=LAMA5 PE=1 SV=1 CANONICAL=O15230-1" }, "locus": { "chromosome": "20", "start_pos": 62337626, "end_pos": 62336910, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474128.1", "url": "https://www.ensembl.org/id/ENST00000474128.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420069.1", "url": "https://www.ensembl.org/id/ENSP00000420069.1" } ] } }, { "isoform_ac": "O15230-1", "url": "", "sequence": { "sequence": "MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAASATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRGQYCDICTAANSNKAHPASNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGRTYQPWQFFASSKRDCLERFGPQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPGAMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLPGFYRSPNHPLDSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSNDTREQVLPAGQIVNCDCSAAGTQGNACRKDPRVGRCLCKPNFQGTHCELCAPGFYGPGCQPCQCSSPGVADDRCDPDTGQCRCRVGFEGATCDRCAPGYFHFPLCQLCGCSPAGTLPEGCDEAGRCLCQPEFAGPHCDRCRPGYHGFPNCQACTCDPRGALDQLCGAGGLCRCRPGYTGTACQECSPGFHGFPSCVPCHCSAEGSLHAACDPRSGQCSCRPRVTGLRCDTCVPGAYNFPYCEAGSCHPAGLAPVDPALPEAQVPCMCRAHVEGPSCDRCKPGFWGLSPSNPEGCTRCSCDLRGTLGGVAECQPGTGQCFCKPHVCGQACASCKDGFFGLDQADYFGCRSCRCDIGGALGQSCEPRTGVCRCRPNTQGPTCSEPARDHYLPDLHHLRLELEEAATPEGHAVRFGFNPLEFENFSWRGYAQMAPVQPRIVARLNLTSPDLFWLVFRYVNRGAMSVSGRVSVREEGRSATCANCTAQSQPVAFPPSTEPAFITVPQRGFGEPFVLNPGTWALRVEAEGVLLDYVVLLPSAYYEAALLQLRVTEACTYRPSAQQSGDNCLLYTHLPLDGFPSAAGLEALCRQDNSLPRPCPTEQLSPSHPPLITCTGSDVDVQLQVAVPQPGRYALVVEYANEDARQEVGVAVHTPQRAPQQGLLSLHPCLYSTLCRGTARDTQDHLAVFHLDSEASVRLTAEQARFFLHGVTLVPIEEFSPEFVEPRVSCISSHGAFGPNSAACLPSRFPKPPQPIILRDCQVIPLPPGLPLTHAQDLTPAMSPAGPRPRPPTAVDPDAEPTLLREPQATVVFTTHVPTLGRYAFLLHGYQPAHPTFPVEVLINAGRVWQGHANASFCPHGYGCRTLVVCEGQALLDVTHSELTVTVRVPKGRWLWLDYVLVVPENVYSFGYLREEPLDKSYDFISHCAAQGYHISPSSSSLFCRNAAASLSLFYNNGARPCGCHEVGATGPTCEPFGGQCPCHAHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCICPPRTIPPDCLLCQPQTFGCHPLVGCEECNCSGPGIQELTDPTCDTDSGQCKCRPNVTGRRCDTCSPGFHGYPRCRPCDCHEAGTAPGVCDPLTGQCYCKENVQGPKCDQCSLGTFSLDAANPKGCTRCFCFGATERCRSSSYTRQEFVDMEGWVLLSTDRQVVPHERQPGTEMLRADLRHVPEAVPEAFPELYWQAPPSYLGDRVSSYGGTLRYELHSETQRGDVFVPMESRPDVVLQGNQMSITFLEPAYPTPGHVHRGQLQLVEGNFRHTETRNTVSREELMMVLASLEQLQIRALFSQISSAVFLRRVALEVASPAGQGALASNVELCLCPASYRGDSCQECAPGFYRDVKGLFLGRCVPCQCHGHSDRCLPGSGVCVDCQHNTEGAHCERCQAGFVSSRDDPSAPCVSCPCPLSVPSNNFAEGCVLRGGRTQCLCKPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNLLFSDCDPLTGACRGCLRHTTGPRCEICAPGFYGNALLPGNCTRCDCTPCGTEACDPHSGHCLCKAGVTGRRCDRCQEGHFGFDGCGGCRPCACGPAAEGSECHPQSGQCHCRPGTMGPQCRECAPGYWGLPEQGCRRCQCPGGRCDPHTGRCNCPPGLSGERCDTCSQQHQVPVPGGPVGHSIHCEVCDHCVVLLLDDLERAGALLPAIHEQLRGINASSMAWARLHRLNASIADLQSQLRSPLGPRHETAQQLEVLEQQSTSLGQDARRLGGQAVGTRDQASQLLAGTEATLGHAKTLLAAIRAVDRTLSELMSQTGHLGLANASAPSGEQLLRTLAEVERLLWEMRARDLGAPQAAAEAELAAAQRLLARVQEQLSSLWEENQALATQTRDRLAQHEAGLMDLREALNRAVDATREAQELNSRNQERLEEALQRKQELSRDNATLQATLHAARDTLASVFRLLHSLDQAKEELERLAASLDGARTPLLQRMQTFSPAGSKLRLVEAAEAHAQQLGQLALNLSSIILDVNQDRLTQRAIEASNAYSRILQAVQAAEDAAGQALQQADHTWATVVRQGLVDRAQQLLANSTALEEAMLQEQQRLGLVWAALQGARTQLRDVRAKKDQLEAHIQAAQAMLAMDTDETSKKIAHAKAVAAEAQDTATRVQSQLQAMQENVERWQGQYEGLRGQDLGQAVLDAGHSVSTLEKTLPQLLAKLSILENRGVHNASLALSASIGRVRELIAQARGAASKVKVPMKFNGRSGVQLRTPRDLADLAAYTALKFYLQGPEPEPGQGTEDRFVMYMGSRQATGDYMGVSLRDKKVHWVYQLGEAGPAVLSIDEDIGEQFAAVSLDRTLQFGHMSVTVERQMIQETKGDTVAPGAEGLLNLRPDDFVFYVGGYPSTFTPPPLLRFPGYRGCIEMDTLNEEVVSLYNFERTFQLDTAVDRPCARSKSTGDPWLTDGSYLDGTGFARISFDSQISTTKRFEQELRLVSYSGVLFFLKQQSQFLCLAVQEGSLVLLYDFGAGLKKAVPLQPPPPLTSASKAIQVFLLGGSRKRVLVRVERATVYSVEQDNDLELADAYYLGGVPPDQLPPSLRRLFPTGGSVRGCVKGIKALGKYVDLKRLNTTGVSAGCTADLLVGRAMTFHGHGFLRLALSNVAPLTGNVYSGFGFHSAQDSALLYYRASPDGLCQVSLQQGRVSLQLLRTEVKTQAGFADGAPHYVAFYSNATGVWLYVDDQLQQMKPHRGPPPELQPQPEGPPRLLLGGLPESGTIYNFSGCISNVFVQRLLGPQRVFDLQQNLGSVNVSTGCAPALQAQTPGLGPRGLQATARKASRRSRQPARHPACMLPPHLRTTRDSYQFGGSLSSHLEFVGILARHRNWPSLSMHVLPRSSRGLLLFTARLRPGSPSLALFLSNGHFVAQMEGLGTRLRAQSRQRSRPGRWHKVSVRWEKNRILLVTDGARAWSQEGPHRQHQGAEHPQPHTLFVGGLPASSHSSKLPVTVGFSGCVKRLRLHGRPLGAPTRMAGVTPCILGPLEAGLFFPGSGGVITLDLPGATLPDVGLELEVRPLAVTGLIFHLGQARTPPYLQLQVTEKQVLLRADDGAGEFSTSVTRPSVLCDGQWHRLAVMKSGNVLRLEVDAQSNHTVGPLLAAAAGAPAPLYLGGLPEPMAVQPWPPAYCGCMRRLAVNRSPVAMTRSVEVHGAVGASGCPAA", "length": 3695, "header": "sp|O15230-1|LAMA5_HUMAN Isoform 1 of Laminin subunit alpha-5 OS=Homo sapiens OX=9606 GN=LAMA5 PE=1 SV=8 CANONICAL=O15230-1" }, "locus": { "chromosome": "20", "start_pos": 62367245, "end_pos": 62309339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252999.7", "url": "https://www.ensembl.org/id/ENST00000252999.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000252999.3", "url": "https://www.ensembl.org/id/ENSP00000252999.3" } ] } }, { "isoform_ac": "O15230-2", "url": "", "sequence": { "sequence": "MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAASATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRGQYCDICTAANSNKAHPASNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGRTYQPWQFFASSKRDCLERFGPQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPGAMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLPGFYRSPNHPLDSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSNDTREQVLPAGQIVSGVSLCRPGWSAVARSRLTSTSASWVRAILLPQSPEWLGLQAPATTPGQFFVFLVETGFHHVGQAGLEL", "length": 561, "header": "sp|O15230-2|LAMA5_HUMAN Isoform 2 of Laminin subunit alpha-5 OS=Homo sapiens OX=9606 GN=LAMA5 PE=1 SV=8 CANONICAL=O15230-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1259, "start_aa": "Ser", "end_pos": 1259, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1259", "evidence": [ { "id": "O15230", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1330, "start_aa": "Asn", "end_pos": 1330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1330", "evidence": [ { "id": "1441", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1441" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1330, "start_aa": "Asn", "end_pos": 1330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1330", "evidence": [ { "id": "O15230", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15230#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "O15230", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15230#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1529, "start_aa": "Asn", "end_pos": 1529, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1529", "evidence": [ { "id": "O15230", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15230#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1555, "start_aa": "Asn", "end_pos": 1555, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1555", "evidence": [ { "id": "O15230", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15230#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G25418HZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2019, "start_aa": "Asn", "end_pos": 2019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2019", "evidence": [ { "id": "1441", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1441" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2019, "start_aa": "Asn", "end_pos": 2019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2019", "evidence": [ { "id": "1441", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1441" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2019, "start_aa": "Asn", "end_pos": 2019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2019", "evidence": [ { "id": "1441", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1441" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2019, "start_aa": "Asn", "end_pos": 2019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2019", "evidence": [ { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2021, "start_aa": "Thr", "end_pos": 2021, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2021", "evidence": [ { "id": "O15230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15230" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2138, "start_aa": "Ser", "end_pos": 2138, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2138", "evidence": [ { "id": "O15230", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15230" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2196, "start_aa": "Asn", "end_pos": 2196, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2196", "evidence": [ { "id": "1441", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1441" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 2196, "start_aa": "Asn", "end_pos": 2196, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2196", "evidence": [ { "id": "O15230", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15230#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "O15230", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 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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": "Requirements for interleukin-4-induced gene expression and functional characterization of Stat6.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Mikita T, Campbell D, Wu P, Williamson K, Schindler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8816495", "url": "https://glygen.org/publication/PubMed/8816495" } ] }, { "title": "Interaction of cartilage matrix protein with aggrecan. 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"MAKRGGQLCVGCAPGARGPRSLAPLPLLLLAGLALVGEARIPGGDGFSLHPPYFNLAEGARITASATCGEEAPTRSASRPTEDLYCKLVGGPVAGGDPNQTIQGQYCDICIAANSNKAHPVSNAIDGTERWWQSPPLSRGPEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSTDFGHTYQPWQFFASSKRDCLERFGPRTLERITQDDDVICTTEYSRIVPLENGEIVVSLVNGRPGARNFSYSPVLRDFTKATNIRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADVCDAKDPSDPFRLQCACQHNTCGGSCDRCCPGFNQQPWKPATTDSANECQSCNCHGHAYDCYYDPEVDRRNASQNLDNVYQGGGVCLDCQHHTTGINCERCVPGFYRAPDQPLDSPHVCQPCDCESDFTDGTCEDLTGRCYCRPNFTGERCSACAEGYVDFPHCYPLPSFPHNDTGEQVLPAGQIVNCDCNAAGTQGNACRKDPRLGRCVCKPNFQGNHCELCAPGFYGPSCHPCQCSSPGVANGLCDPESGQCTCRTGFEGDKCDHCALGYFHFPLCQLCGCSPAGTLPQGCDESGHCQCRPGFDGPHCDRCLPGYHGYPDCHACACDPRGSLDQQCGAGGLCHCRPGYTGATCQECSPGFYGFPSCIPCHCSADGSMHTTCDPTTGQCRCRPRVTGLRCDMCVPGAYNFPYCEAGSCHPAGLAPANPALPEAQAPCTCRAHVEGPSCDRCKPGYWGLSSSNPEGCTRCSCDPRGTLGGVTECQGNGQCFCKAHVCGKTCAACKDGFFGLDHADYYGCRSCRCDVGGALGQGCEPKTGACRCRPNTQGPSCSEPAKDHYLPDLHHIRLELEEAATPEGHAVRFGFNPLEFENFSWRGYAHMTAIQPRIVARLNVTSPDLFRLVFRYVNRGSTSVNGQVSVREEGKFSSCTNCTEQSQPVAFPPSTEPAFVTVPQRGFGEPFVLNPGTWALLVEAEGVLLDYVVLLPSTYYEAALLQHRVTEACTYHPSALHPTENCLLYAHLPLDGFPSAAGTEALCRHDNSLPRPCPTEQLSPLHPPLATCAGSDVDIQLEMAVPRPGRYALVVEYVSEYSHQEMGVAVHTPQRAPQQGMIDLHPCPYSSLCRGPARDTQHHLAVFHLDSEASIRLTAEQAHFFLHSVTLIPVEEFSAEFVEPRVFCVSSHGAFNPGSAACLASRFPKPPQPIVLKDCQVLPLPPDLPLTQSQELSPGASPVGPQPRPPTAVDPNAEPTLIRHPQGTVVFTTQVPTLGRYAFLLHSYQPVHPSFPVEVLIDGGRIWQGHANASFCPHGYGCRTLVSCEGQTMLDVTDNELAVTVRVPEGRWLWLDYILVVPEDAYSSSYLQEEPLDKSYDFISHCATQGYHISPSSSSLFCRNAATSLSLFYNNGALPCGCHEVGAVGPTCEPFGGQCPCRGHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCICPPRTVPPDCLVCQPQSFGCHPLVGCEECNCSGPGVQELTDPTCDMDSGQCRCRPNVAGRRCDTCAPGFYSYPSCRPCDCHEAGTMASVCDPFTGQCHCKENVQGSRCDQCRVGTFSLDAANPKGCTRCFCFGATERCGNSNYARHEFMDMEGWVLLSSDRQVVPHEHRPEMELLHADLRLVADTFPELYWQAPPSYLGDRVSSYGGTLHYELHSETRRGDVFIPYESRPDVVLQGNQMSIAFLELAYPSPGQVHRGQLQLVEGNFRHLETHNPVSREELMMVLAGLEQLQIRALFSQTSSTVSLRRVVLEVASEAGGGPPASNVELCMCPANYRGDSCQECAPGYYRDTKGLFLGRCVPCQCHGHSDRCLPGSGTCVGCQHNTEGDQCERCRPGFVSSDPSDPASPCVSCPCPLAVPSNNFADGCILRNGRTQCLCRPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNMIFSDCDPLTGACRGCLRHTTGPRCESCAPGFYGNALLPGNCTRCDCSPCGTETCDPQTGRCLCKAGVTGQRCDHCLEGHFGFEQCQGCHPCACGPAAEGSECNPQTGQCHCRPGTTGPQCLECAPGYWGLPEKGCRRCQCPRGHCDPHTGRCTCPPGLSGERCDTCSQQHQVPVPGRPGSHGIHCEVCDHCVVLLLDDLERAGALLPSIREQLRGINASSTAWARLHRLNASIADLQSKLRSPLGPHNQTAEQLQTLEQQSISLQQDTERLGSQATGVQDQAGRLLDNTESTLVRAQKLLEIVQAVSRALNELASQGFPGNATTPSGEQLRWALAEVERLLWDMRTRDLGAPQAVAEAELAEAQRLMARVQEQLTSFWEENQALATHIRDQLAQYESGLMDLREALNHAVNTTREADELNSRNEERLREALQWKQELSQDNATLKATLQAASLTLAHVSELLQGIDKAKEDLEHLAASLDGAWTPLLKRMQAFSPASSKVDLVEAAEAHAQKLNQLAINLSGIIQGINQDRFIQRAVEASNAYSSILQAVQAAEDAAGHALRQASRTWEMVVQRGLAAGARQLLANSSALVETILGHQERLGLAHGRLQAAGTQLRDVRAKKNQLAAQIQEAQAMLAMDTSETSEKIAHAKAVAAEARDTAAHVQSQLQGMQKNVERWQSQLGGLRGQDLSQAERDASSSVSTLEKTLPQLLAKLSHLENRGVHNASLALSANIGRVRKLIAQARSAANKVKVSMKFNGRSGVRLRTPRDLADLAAYTALKFYIQSPVPAPEPGENTGDRFVLYMGSRQATGDYMGVSLRNQKVHWVYRLGEAGPTTLSIDENIGEQFAAVSIDRTLQFGHMSVTVEKHMVHEIKGDTVAPGREGLLNLNPDDFVFYVGGYPSNFTPPEPLRFPGYLGCIEMDTLNEEVVSLYNFEQAFKLTTAVDKPCARSKTTGDPWLTDGSYLDGSGFARITFEKQFSNTKRFEQELRLVSYNGIIFFLKQENQFLCLAVQDGTLVLLYDFGSGLKRADPLQPPQALTAASKAIQVFLLAGARKRVLVRVERATVFSVDQDNELEMADAYYLGGVPPEELPPSLRRLFPSGGSVRGCIKGIKALGKYVDLKRLNTTGISFSCTADLLMGRTMTFHGHGFLPLALPDVAPITGEVYSGFGFRGTQDDNLLYYRTSPDGPYQVSLRGGHVTLQFMNREVETQRVFADGAPHYVAFYSNVTRVWLYVDDQLQPVKSREGTTPMLQLQPEEPPRLLLGGLPMSGTFHNFSGCISNVFVQRLRGPQRVFDLHQNMGSVNVSVGCTPAQLQTSGATAQKVSRRSRQPSQDLTCMTPWLLGTIQDAYQFGGPGPSYLQFVGVSPSHRNRLHLSMLVRPHGASQGLLLYVAPLSSHSPSLVLFLNHGRFVAQTEGPGPQLQAQSRQHSRAGQWHRVSVRWGMQQVQLVVDGSQTWSQKAPHRRVHRAEGPQHYTLFVGGLPAGSYSSKLPVSVGFSGCMKKLQLDKRPLRAPTRMVGVTPCVSGPLEDGLFFPGSEGAVTLELPKAKMPHVSLELEVRPLAAAGLIFHLGQAHATPYVQLQLLTEQVLLRANDGAGEFSTWVTYPKLCDGQWHQVTVIKGRNTLRLEVDTHSNHTTGRLPETLADSPALLHLGSPPKSEAAWPEPPAYRGCLRKLLFNGAPVNMTASARIQGAVGMSGCPSGTLAISKQGKALTQRQANPSVFPLRWH", "length": 3713 }, "evidence": [ { "id": "45920043", "url": "http://www.informatics.jax.org/homology/45920043", "database": "MGI" }, { "id": "O15230", "url": "https://omabrowser.org/oma/group/O15230/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61001-1", "protein_name": "Laminin subunit alpha-5", "gene_name": "Lama5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAKRGGQLCAGSAPGALGPRSPAPRPLLLLLAGLALVGEARTPGGDGFSLHPPYFNLAEGARITASATCGEEAPTRSVSRPTEDLYCKLVGGPVAGGDPNQTIQGQYCDICTAANSNKAHPVSNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSTDFGHTYQPWQFFASSKRDCLERFGPRTLERITQDDDVICTTEYSRIVPLENGEIVVSLVNGRPGALNFSYSPLLRDFTKATNIRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADVCDAKDPLDPFRLQCACQHNTCGGSCDRCCPGFNQQPWKPATTDSANECQSCNCHGHAYDCYYDPEVDRRNASQNQDNVYQGGGVCLDCQHHTTGINCERCLPGFFRAPDQPLDSPHVCRPCDCESDFTDGTCEDLTGRCYCRPNFTGELCAACAEGYTDFPHCYPLPSFPHNDTREQVLPAGQIVNCDCNAAGTQGNACRKDPRLGRCVCKPNFRGAHCELCAPGFHGPSCHPCQCSSPGVANSLCDPESGQCMCRTGFEGDRCDHCALGYFHFPLCQLCGCSPAGTLPEGCDEAGRCQCRPGFDGPHCDRCLPGYHGYPDCHACACDPRGALDQQCGVGGLCHCRPGYTGATCQECSPGFYGFPSCIPCHCSADGSLHTTCDPTTGQCRCRPRVTGLHCDMCVPGAYNFPYCEAGSCHPAGLAPANPALPETQAPCMCRAHVEGPSCDRCKPGYWGLSASNPEGCTRCSCDPRGTLGGVTECQGNGQCFCKAHVCGKTCAACKDGFFGLDYADYFGCRSCRCDVGGALGQGCEPKTGACRCRPNTQGPTCSEPAKDHYLPDLHHMRLELEEAATPEGHAVRFGFNPLEFENFSWRGYAHMMAIQPRIVARLNVTSPDLFRLVFRYVNRGSTSVNGQISVREEGKLSSCTNCTEQSQPVAFPPSTEPAFVTVPQRGFGEPFVLNPGIWALLVEAEGVLLDYVVLLPSTYYEAALLQHRVTEACTYRPSALHSTENCLVYAHLPLDGFPSAAGTEALCRHDNSLPRPCPTEQLSPSHPPLATCFGSDVDIQLEMAVPQPGQYVLVVEYVGEDSHQEMGVAVHTPQRAPQQGVLNLHPCPYSSLCRSPARDTQHHLAIFYLDSEASIRLTAEQAHFFLHSVTLVPVEEFSTEFVEPRVFCVSSHGTFNPSSAACLASRFPKPPQPIILKDCQVLPLPPDLPLTQSQELSPGAPPEGPQPRPPTAVDPNAEPTLLRHPQGTVVFTTQVPTLGRYAFLLHGYQPVHPSFPVEVLINGGRIWQGHANASFCPHGYGCRTLVLCEGQTMLDVTDNELTVTVRVPEGRWLWLDYVLIVPEDAYSSSYLQEEPLDKSYDFISHCATQGYHISPSSSSPFCRNAATSLSLFYNNGALPCGCHEVGAVSPTCEPFGGQCPCRGHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCICPPRTVPPDCLVCQPQSFGCHPLVGCEECNCSGPGVQELTDPTCDMDSGQCRCRPNVAGRRCDTCAPGFYGYPSCRPCDCHEAGTMASVCDPLTGQCHCKENVQGSRCDQCRVGTFSLDAANPKGCTRCFCFGATERCGNSNLARHEFVDMEGWVLLSSDRQVVPHEHRPEIELLHADLRSVADTFSELYWQAPPSYLGDRVSSYGGTLHYELHSETQRGDIFIPYESRPDVVLQGNQMSIAFLELAYPPPGQVHRGQLQLVEGNFRHLETHNPVSREELMMVLAGLEQLQIRALFSQTSSSVSLRRVVLEVASEAGRGPPASNVELCMCPANYRGDSCQECAPGYYRDTKGLFLGRCVPCQCHGHSDRCLPGSGICVGCQHNTEGDQCERCRPGFVSSDPSNPASPCVSCPCPLAVPSNNFADGCVLRNGRTQCLCRPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNMIFSDCDPLTGACRGCLRHTTGPHCERCAPGFYGNALLPGNCTRCDCSPCGTETCDPQSGRCLCKAGVTGQRCDRCLEGYFGFEQCQGCRPCACGPAAKGSECHPQSGQCHCQPGTTGPQCLECAPGYWGLPEKGCRRCQCPRGHCDPHTGHCTCPPGLSGERCDTCSQQHQVPVPGKPGGHGIHCEVCDHCVVLLLDDLERAGALLPAIREQLQGINASSAAWARLHRLNASIADLQSKLRSPPGPRYQAAQQLQTLEQQSISLQQDTERLGSQATGVQGQAGQLLDTTESTLGRAQKLLESVRAVGRALNELASRMGQGSPGDALVPSGEQLRWALAEVERLLWDMRTRDLGAQGAVAEAELAEAQRLMARVQEQLTSFWEENQSLATHIRDQLAQYESGLMDLREALNQAVNTTREAEELNSRNQERLKEALQWKQELSQDNATLKATLQAASLILGHVSELLQGIDQAKEDLEHLAASLDGAWTPLLKRMQAFSPASSKVDLVEAAEAHAQKLNQLAINLSGIILGINQDRFIQRAVEASNAYSSILQAVQAAEDAAGQALRQASRTWEMVVQRGLAAGARQLLANSSALEETILGHQGRLGLAQGRLQAAGIQLHNVWARKNQLAAQIQEAQAMLAMDTSETSEKIAHAKAVAAEALSTATHVQSQLQGMQKNVERWQSQLGGLQGQDLSQVERDASSSVSTLEKTLPQLLAKLSRLENRGVHNASLALSANIGRVRKLIAQARSAASKVKVSMKFNGRSGVRLRTPRDLADLAAYTALKFHIQSPVPAPEPGKNTGDHFVLYMGSRQATGDYMGVSLRNQKVHWVYRLGKAGPTTLSIDENIGEQFAAVSIDRTLQFGHMSVTVEKQMVHEIKGDTVAPGSEGLLNLHPDDFVFYVGGYPSNFTPPEPLRFPGYLGCIEMETLNEEVVSLYNFEQTFMLDTAVDKPCARSKATGDPWLTDGSYLDGSGFARISFEKQFSNTKRFDQELRLVSYNGIIFFLKQESQFLCLAVQEGTLVLFYDFGSGLKKADPLQPPQALTAASKAIQVFLLAGNRKRVLVRVERATVFSVDQDNMLEMADAYYLGGVPPEQLPLSLRQLFPSGGSVRGCIKGIKALGKYVDLKRLNTTGISFGCTADLLVGRTMTFHGHGFLPLALPDVAPITEVVYSGFGFRGTQDNNLLYYRTSPDGPYQVSLREGHVTLRFMNQEVETQRVFADGAPHYVAFYSNVTGVWLYVDDQLQLVKSHERTTPMLQLQPEEPSRLLLGGLPVSGTFHNFSGCISNVFVQRLRGPQRVFDLHQNMGSVNVSVGCTPAQLIETSRATAQKVSRRSRQPSQDLACTTPWLPGTIQDAYQFGGPLPSYLQFVGISPSHRNRLHLSMLVRPHAASQGLLLSTAPMSGRSPSLVLFLNHGHFVAQTEGPGPRLQVQSRQHSRAGQWHRVSVRWGMQQIQLVVDGSQTWSQKALHHRVPRAERPQPYTLSVGGLPASSYSSKLPVSVGFSGCLKKLQLDKRPLRTPTQMVGVTPCVSGPLEDGLFFPGSEGVVTLELPKAKMPYVSLELEMRPLAAAGLIFHLGQALATPYMQLKVLTEQVLLQANDGAGEFSTWVTYPKLCDGRWHRVAVIMGRDTLRLEVDTQSNHTTGRLPESLAGSPALLHLGSLPKSSTARPELPAYRGCLRKLLINGAPVNVTASVQIQGAVGMRGCPSGTLALSKQGKALTQRQAKPSVSPLLWH", "length": 3718 }, "evidence": [ { "id": "45920043", "url": "http://www.informatics.jax.org/homology/45920043", "database": "MGI" }, { "id": "O15230", "url": "https://omabrowser.org/oma/group/O15230/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 13, "go_terms": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "laminin-10 complex", "id": "GO:0043259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043259", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "laminin-11 complex", "id": "GO:0043260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043260", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "laminin-5 complex", "id": "GO:0005610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005610", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "extracellular matrix of synaptic cleft", "id": "GO:0098965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098965", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "morphogenesis of embryonic epithelium", "id": "GO:0016331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016331", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "branching involved in salivary gland morphogenesis", "id": "GO:0060445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" }, { "name": "trunk neural crest cell migration", "id": "GO:0036484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036484", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O15230", "url": "https://www.uniprot.org/uniprot/O15230" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "laminin subunit alpha-5 O-glycosylated 1 (human)", "definition": "A laminin subunit alpha-5 (human) that has been O-glycosylated at the residue equivalent to Ser-1259 of the amino acid sequence represented by UniProtKB:O15230-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O15230-1, Ser-1259, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050722", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050722" } ] } ], "site_annotation": [ { "start_pos": 1330, "end_pos": 1332, "annotation": "n_glycosylation_sequon" }, { "start_pos": 143, "end_pos": 145, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1529, "end_pos": 1531, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1555, "end_pos": 1557, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2019, "end_pos": 2021, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2196, "end_pos": 2198, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2209, "end_pos": 2211, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2303, "end_pos": 2305, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2423, "end_pos": 2425, "annotation": "n_glycosylation_sequon" }, { "start_pos": 243, "end_pos": 245, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2501, "end_pos": 2503, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2568, "end_pos": 2570, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2707, "end_pos": 2709, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3107, "end_pos": 3109, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3209, "end_pos": 3211, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3257, "end_pos": 3259, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3287, "end_pos": 3289, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3626, "end_pos": 3628, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3671, "end_pos": 3673, "annotation": "n_glycosylation_sequon" }, { "start_pos": 452, "end_pos": 454, "annotation": "n_glycosylation_sequon" }, { "start_pos": 479, "end_pos": 481, "annotation": "n_glycosylation_sequon" }, { "start_pos": 900, "end_pos": 902, "annotation": "n_glycosylation_sequon" }, { "start_pos": 921, "end_pos": 923, "annotation": "n_glycosylation_sequon" }, { "start_pos": 959, "end_pos": 961, "annotation": "n_glycosylation_sequon" }, { "start_pos": 95, "end_pos": 97, "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": [ 95, 143, 243, 327, 452, 479, 900, 921, 959, 1330, 1529, 1555, 2019, 2196, 2209, 2303, 2423, 2501, 2568, 2707, 3107, 3209, 3257, 3287, 3626 ], "o_linked_sites": [ 97, 245, 1259, 2021, 2138, 2211, 2217, 2425, 2845, 3116, 3690 ], "snv_sites": [ 95, 143, 243, 245, 384, 419, 434, 452, 454, 479, 613, 902, 922, 933, 941, 959, 961, 1089, 1259, 1322, 1330, 1332, 1355, 1531, 1925, 1970, 2019, 2021, 2024, 2134, 2138, 2196, 2198, 2211, 2286, 2303, 2305, 2365, 2404, 2423, 2425, 2501, 2503, 2525, 2570, 2845, 2884, 3107, 3109, 3116, 3141, 3148, 3209, 3211, 3257, 3284, 3287, 3289, 3314, 3476, 3626, 3690 ], "glycation_sites": [], "phosphorylation_sites": [ 2715 ], "sequon_annotation_sites": [ { "start_pos": 1330, "end_pos": 1332 }, { "start_pos": 143, "end_pos": 145 }, { "start_pos": 1529, "end_pos": 1531 }, { "start_pos": 1555, "end_pos": 1557 }, { "start_pos": 2019, "end_pos": 2021 }, { "start_pos": 2196, "end_pos": 2198 }, { "start_pos": 2209, "end_pos": 2211 }, { "start_pos": 2303, "end_pos": 2305 }, { "start_pos": 2423, "end_pos": 2425 }, { "start_pos": 243, "end_pos": 245 }, { "start_pos": 2501, "end_pos": 2503 }, { "start_pos": 2568, "end_pos": 2570 }, { "start_pos": 2707, "end_pos": 2709 }, { "start_pos": 3107, "end_pos": 3109 }, { "start_pos": 3209, "end_pos": 3211 }, { "start_pos": 3257, "end_pos": 3259 }, { "start_pos": 3287, "end_pos": 3289 }, { "start_pos": 3626, "end_pos": 3628 }, { "start_pos": 3671, "end_pos": 3673 }, { "start_pos": 452, "end_pos": 454 }, { "start_pos": 479, "end_pos": 481 }, { "start_pos": 900, "end_pos": 902 }, { "start_pos": 921, "end_pos": 923 }, { "start_pos": 959, "end_pos": 961 }, { "start_pos": 95, "end_pos": 97 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 80 }, { "field": "total_sites", "count": 36 }, { "field": "n_linked_glycans", "count": 26 }, { "field": "n_linked_glycan_sites", "count": 36 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "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": 17 }, { "field": "total_sites", "count": 17 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 17 }, { "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": 55 }, { "field": "total_sites", "count": 22 }, { "field": "n_linked_glycans", "count": 26 }, { "field": "n_linked_glycan_sites", "count": 11 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "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": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 85 }, { "field": "total_sites", "count": 62 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 73 }, { "field": "total_sites", "count": 55 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 224 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }