{ "uniprot_canonical_ac": "P11277-1", "uniprot_ac": "P11277", "uniprot_id": "SPTB1_HUMAN", "mass": { "chemical_mass": 246468.0, "monoisotopic_mass": 246468.0 }, "refseq": {}, "gene_names": [ { "name": "SPTB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11277", "id": "P11277" }, { "name": "SPTB1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11277", "id": "P11277" } ], "protein_names": [ { "name": "Spectrin beta chain, erythrocytic", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11277" }, { "name": "Beta-I spectrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11277" } ], "function": [ { "annotation": "Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277#function" } ] } ], "disease": [ { "disease_id": "DOID:0110917", "recommended_name": { "id": "DOID:0110917", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110917", "name": "hereditary spherocytosis type 2", "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3." }, "synonyms": [ { "id": "DOID:0110917", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110917", "name": "HS2", "description": "" }, { "id": "DOID:0110917", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110917", "name": "SPH2", "description": "" }, { "id": "DOID:0110917", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110917", "name": "hereditary spherocytosis 2", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "hereditary spherocytosis type 2", "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "HS2", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "SPH2", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "SPTB hereditary spherocytosis", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "hereditary spherocytosis 2", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "hereditary spherocytosis caused by mutation in SPTB", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "hereditary spherocytosis type 2", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "spherocytosis, type 2", "description": "" }, { "id": "MONDO:0000913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0000913", "name": "spherocytosis, hereditary, 2", "description": "" }, { "id": "MIM:616649", "resource": "MIM", "url": "https://www.omim.org/entry/616649", "name": "Spherocytosis 2", "description": "Spherocytosis 2" } ], "evidence": [ { "id": "616649", "database": "MIM", "url": "https://www.omim.org/entry/616649" } ] }, { "disease_id": "MONDO:0054780", "recommended_name": { "id": "MONDO:0054780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054780", "name": "elliptocytosis 3", "description": "" }, "synonyms": [ { "id": "MONDO:0054780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054780", "name": "anemia, neonatal hemolytic, fatal or near-fatal", "description": "" }, { "id": "MONDO:0054780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054780", "name": "elliptocytosis 3", "description": "" }, { "id": "MONDO:0054780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054780", "name": "elliptocytosis-3", "description": "" }, { "id": "MONDO:0054780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054780", "name": "EL3", "description": "" }, { "id": "MONDO:0054780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054780", "name": "anemia, perinatal hemolytic, fatal or near-fatal", "description": "" }, { "id": "MIM:617948", "resource": "MIM", "url": "https://www.omim.org/entry/617948", "name": "Elliptocytosis 3", "description": "Elliptocytosis 3" } ], "evidence": [ { "id": "617948", "database": "MIM", "url": "https://www.omim.org/entry/617948" } ] } ], "snv": [ { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" }, { "id": "rs768901063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768901063" }, { "id": "rs768901063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768901063" }, { "id": "rs768901063", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768901063" }, { "id": "rs768901063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768901063" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1161, "end_pos": 1161, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SHT->NHT).", "chr_id": "14", "chr_pos": "64786483", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1161", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs368833188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368833188" }, { "id": "rs368833188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368833188" }, { "id": "rs368833188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368833188#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1297, "end_pos": 1297, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "14", "chr_pos": "64784359", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1350562659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350562659" }, { "id": "rs1350562659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350562659" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1297, "end_pos": 1297, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "14", "chr_pos": "64784361_64784362insTCAATAA", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368833188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368833188" }, { "id": "rs368833188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368833188" }, { "id": "rs368833188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368833188#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1297, "end_pos": 1297, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "14", "chr_pos": "64784359", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140446828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140446828" }, { "id": "rs140446828", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140446828" }, { "id": "rs140446828", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140446828#frequency_tab" }, { "id": "rs140446828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140446828" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1312, "end_pos": 1312, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKW->NKS).", "chr_id": "14", "chr_pos": "64784314", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147059670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147059670" }, { "id": "rs147059670", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147059670" }, { "id": "rs147059670", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147059670" }, { "id": "rs147059670", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147059670#frequency_tab" }, { "id": "rs147059670", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147059670" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 14, "end_pos": 14, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "14", "chr_pos": "64823055", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1421537038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421537038" }, { "id": "rs1421537038", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421537038#frequency_tab" }, { "id": "rs1421537038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421537038" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1586, "end_pos": 1586, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "14", "chr_pos": "64775211", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759219902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759219902" }, { "id": "rs759219902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759219902" }, { "id": "rs759219902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759219902" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1652, "end_pos": 1652, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "14", "chr_pos": "64774415", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1652", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1652, "end_pos": 1652, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->P).", "chr_id": "14", "chr_pos": "64774416", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S1652", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760005477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760005477" }, { "id": "rs760005477", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760005477" }, { "id": "rs760005477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760005477#frequency_tab" }, { "id": "rs760005477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760005477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1751, "end_pos": 1751, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "14", "chr_pos": "64772881", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1751", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" }, { "id": "rs754723993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754723993" }, { "id": "rs754723993", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754723993" }, { "id": "rs754723993", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754723993" }, { "id": "rs754723993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754723993" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2017, "end_pos": 2017, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "14", "chr_pos": "64767833", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2017", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1010852820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1010852820" }, { "id": "rs1010852820", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1010852820#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 241, "end_pos": 241, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "14", "chr_pos": "64801327", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767892082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767892082" }, { "id": "rs767892082", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767892082" }, { "id": "rs767892082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767892082" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "14", "chr_pos": "64822994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1266357450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266357450" }, { "id": "rs1266357450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1266357450#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 395, "end_pos": 395, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "14", "chr_pos": "64796715", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" } ], "glycoeffect": [], "start_pos": 498, "end_pos": 498, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "64795489", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R498", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 668, "end_pos": 668, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "14", "chr_pos": "64793661", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D668", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1003635786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003635786" }, { "id": "rs1003635786", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1003635786" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 746, "end_pos": 746, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFF->NFS).", "chr_id": "14", "chr_pos": "64793426", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" } ], "glycoeffect": [], "start_pos": 74, "end_pos": 74, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "64805018", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R74", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1566762795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1566762795" }, { "id": "rs1566762795", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1566762795" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 910, "end_pos": 910, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "14", "chr_pos": "64791795", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A910", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11277", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 971, "end_pos": 971, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs138556050.", "chr_id": "14", "chr_pos": "64787053", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T971", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.36", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "51.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "62.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "62.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "54.48", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "58.47", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.34", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "51.97", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "57.82", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "63.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "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": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "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": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11277" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "common_name": "Human" } ], "gene": [ { "name": "SPTB", "url": "https://www.uniprot.org/uniprot/P11277", "locus": { "chromosome": "14", "start_pos": 64746283, "end_pos": 64879907, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000070182", "url": "https://www.ensembl.org/id/ENSG00000070182" } ] } } ], "crossref": [ { "id": "ENSG00000070182", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070182", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P11277", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11277", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00176", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00176", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd10571", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd10571", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd21317", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21317", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd21319", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21319", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SPTB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTB", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6710", "url": "https://www.ncbi.nlm.nih.gov/gene/6710", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2860", "url": "https://glyconnect.expasy.org/browser/proteins/2860", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "11274", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11274", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P11277", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11277*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001589", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001589", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001715", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001715", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002017", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002017", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016343", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016343", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018159", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018159", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041681", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041681", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6710", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6710", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "182870", "url": "http://www.omim.org/entry/182870", "database": "MIM", "categories": [ "Other" ] }, { "id": "616649", "url": "http://www.omim.org/entry/616649", "database": "MIM", "categories": [ "Other" ] }, { "id": "617948", "url": "http://www.omim.org/entry/617948", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11277", "url": "https://www.nextprot.org/entry/NX_P11277", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P11277", "url": "https://oglcnac.org/atlas/detail/P11277", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P11277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EPADMTS", "url": "https://omabrowser.org/oma/group/EPADMTS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2872403at2759", "url": "http://www.orthodb.org/?query=2872403at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11915", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11915", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11915:SF248", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11915:SF248", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1S35", "url": "https://www.rcsb.org/structure/1S35", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EDU", "url": "https://www.rcsb.org/structure/3EDU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3F57", "url": "https://www.rcsb.org/structure/3F57", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KBT", "url": "https://www.rcsb.org/structure/3KBT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KBU", "url": "https://www.rcsb.org/structure/3KBU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3LBX", "url": "https://www.rcsb.org/structure/3LBX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00307", "url": "http://pfam.xfam.org/family/PF00307", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00435", "url": "http://pfam.xfam.org/family/PF00435", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF15410", "url": "http://pfam.xfam.org/family/PF15410", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11277", "url": "https://pharos.nih.gov/targets/P11277", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11277", "url": "http://purl.obolibrary.org/obo/PR_P11277", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000338", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YJE6", "url": "https://www.uniprot.org/uniprot/H0YJE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJE6-1", "url": "https://www.uniprot.org/uniprot/H0YJE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11277-1", "url": "https://www.uniprot.org/uniprot/P11277-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11277-2", "url": "https://www.uniprot.org/uniprot/P11277-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11277-3", "url": "https://www.uniprot.org/uniprot/P11277-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHSIDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGYQPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKEVSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRALGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLRQQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTLMTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYCVDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQLMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSITQKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLGQRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSLEAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNNEKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVAELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARSSDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFAQVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLGHLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAIVMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAEERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETGAIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLHRYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWMESIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEIREKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAGEAPVSHHAATERTSPVSLWSRLSSSWESLQPEPSHPY", "length": 2137, "header": "sp|P11277-1|SPTB1_HUMAN Isoform 1 of Spectrin beta chain, erythrocytic OS=Homo sapiens OX=9606 GN=SPTB PE=1 SV=5 CANONICAL=P11277-1" }, "isoforms": [ { "isoform_ac": "H0YJE6-1", "url": "", "sequence": { "sequence": "GKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARSSDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFAQVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLGHLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAIVMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAEERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETGAIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLHRYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWMESIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEIREKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAGEAPVSHHAATERTSPGEEEGTWPQNLQQPPPPGQHKDGQKSTGDERPTTEPLFKVLDTPLSEGDEPATLPAPRDHGQSVQMEGYLGRKHDLEGPNKKASNSKGEEGEERRETEEEDEEEEETESVAVEMQQHASHVSWNNLYCVLRNSELTFYKDAKNLALGMPYHGEEPLALRHAICEIAANYKKKKHVFKLRLSNGSEWLFHGKDEEEMLSWLQGVSTAINESQSIRVKAQSLPLPSLSGPDASLGKKDKEKRFSFFPKKK", "length": 1028, "header": "tr|H0YJE6-1|H0YJE6_HUMAN Computationally mapped isoform of Spectrin beta, erythrocytic OS=Homo sapiens OX=9606 GN=SPTB PE=1 SV=1 CANONICAL=P11277-1" }, "locus": { "chromosome": "14", "start_pos": 64782550, "end_pos": 64749309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553938.5", "url": "https://www.ensembl.org/id/ENST00000553938.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451324.1", "url": "https://www.ensembl.org/id/ENSP00000451324.1" } ] } }, { "isoform_ac": "P11277-1", "url": "", "sequence": { "sequence": "MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHSIDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGYQPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKEVSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRALGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLRQQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTLMTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYCVDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQLMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSITQKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLGQRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSLEAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNNEKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVAELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARSSDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFAQVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLGHLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAIVMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAEERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETGAIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLHRYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWMESIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEIREKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAGEAPVSHHAATERTSPVSLWSRLSSSWESLQPEPSHPY", "length": 2137, "header": "sp|P11277-1|SPTB1_HUMAN Isoform 1 of Spectrin beta chain, erythrocytic OS=Homo sapiens OX=9606 GN=SPTB PE=1 SV=5 CANONICAL=P11277-1" }, "locus": { "chromosome": "14", "start_pos": 64823094, "end_pos": 64766660, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389720.4", "url": "https://www.ensembl.org/id/ENST00000389720.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000374370.4", "url": "https://www.ensembl.org/id/ENSP00000374370.4" } ] } }, { "isoform_ac": "P11277-2", "url": "", "sequence": { "sequence": "MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHSIDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGYQPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKEVSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRALGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLRQQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTLMTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYCVDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQLMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSITQKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLGQRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSLEAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNNEKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVAELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARSSDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFAQVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLGHLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAIVMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAEERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETGAIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLHRYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWMESIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEIREKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAGEAPVSHHAATERTSPGEEEGTWPQNLQQPPPPGQHKDGQKSTGDERPTTEPLFKVLDTPLSEGDEPATLPAPRDHGQSVQMEGYLGRKHDLEGPNKKASNRSWNNLYCVLRNSELTFYKDAKNLALGMPYHGEEPLALRHAICEIAANYKKKKHVFKLRLSNGSEWLFHGKDEEEMLSWLQGVSTAINESQSIRVKAQSLPLPSLSGPDASLGKKDKEKRFSFFPKKK", "length": 2328, "header": "sp|P11277-2|SPTB1_HUMAN Isoform 2 of Spectrin beta chain, erythrocytic OS=Homo sapiens OX=9606 GN=SPTB PE=1 SV=5 CANONICAL=P11277-1" }, "locus": { "chromosome": "14", "start_pos": 64823094, "end_pos": 64749309, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389722.7", "url": "https://www.ensembl.org/id/ENST00000389722.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000374372.3", "url": "https://www.ensembl.org/id/ENSP00000374372.3" } ] } }, { "isoform_ac": "P11277-3", "url": "", "sequence": { "sequence": "MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHSIDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGYQPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKEVSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRALGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLRQQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTLMTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYCVDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQLMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSITQKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLGQRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSLEAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNNEKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVAELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARSSDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFAQVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLGHLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAIVMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAEERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETGAIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLHRYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWMESIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEIREKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTASRGGRRDSRGGSSFPPCGHRENVPGQSLVSFV", "length": 2106, "header": "sp|P11277-3|SPTB1_HUMAN Isoform 3 of Spectrin beta chain, erythrocytic OS=Homo sapiens OX=9606 GN=SPTB PE=1 SV=5 CANONICAL=P11277-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1297, "start_aa": "Ser", "end_pos": 1297, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1297", "evidence": [ { "id": "P11277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P11277", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11277" }, { "id": "2860", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2860" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1652, "start_aa": "Ser", "end_pos": 1652, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1652", "evidence": [ { "id": "P11277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P11277", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11277" }, { "id": "2860", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2860" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1928, "start_aa": "Thr", "end_pos": 1928, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1928", "evidence": [ { "id": "P11277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P11277", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11277" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1936, "start_aa": "Ser", "end_pos": 1936, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1936", "evidence": [ { "id": "P11277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P11277", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11277" }, { "id": "2860", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2860" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 671, "start_aa": "Ser", "end_pos": 671, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser671", "evidence": [ { "id": "P11277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P11277", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11277" }, { "id": "2860", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2860" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 767, "start_aa": "Ser", "end_pos": 767, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser767", "evidence": [ { "id": "P11277", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P11277", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11277" }, { "id": "2860", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2860" } ] } ], "phosphorylation": [ { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "site_lbl": "Thr104" }, { "start_pos": 1297, "end_pos": 1297, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "site_lbl": "Ser1297" }, { "start_pos": 2043, "end_pos": 2043, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "site_lbl": "Ser2043" }, { "start_pos": 2073, "end_pos": 2073, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "site_lbl": "Thr2073" }, { "start_pos": 2110, "end_pos": 2110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" }, { "database": "phospho.ELM", "id": "P11277", "url": "http://phospho.elm.eu.org/byAccession/P11277.html" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "site_lbl": "Thr2110" }, { "start_pos": 2114, "end_pos": 2114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "27869121", "url": "" }, { "database": "phospho.ELM", "id": "P11277", "url": "http://phospho.elm.eu.org/byAccession/P11277.html" } ], "site_lbl": "Ser2114" }, { "start_pos": 2117, "end_pos": 2117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" }, { "database": "phospho.ELM", "id": "P11277", "url": "http://phospho.elm.eu.org/byAccession/P11277.html" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "site_lbl": "Ser2117" }, { "start_pos": 2123, "end_pos": 2123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "27869121", "url": "" }, { "database": "phospho.ELM", "id": "P11277", "url": "http://phospho.elm.eu.org/byAccession/P11277.html" } ], "site_lbl": "Ser2123" }, { "start_pos": 2125, "end_pos": 2125, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "P11277", "url": "http://phospho.elm.eu.org/byAccession/P11277.html" } ], "site_lbl": "Ser2125" }, { "start_pos": 2128, "end_pos": 2128, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" }, { "database": "phospho.ELM", "id": "P11277", "url": "http://phospho.elm.eu.org/byAccession/P11277.html" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "site_lbl": "Ser2128" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser36" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser96" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10052452", "url": "https://glygen.org/publication/PubMed/10052452" } ] }, { "title": "GTP-dependent binding of ADP-ribosylation factor to coatomer in close proximity to the binding site for dilysine retrieval motifs and p23.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zhao L, Helms JB, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10318838", "url": "https://glygen.org/publication/PubMed/10318838" } ] }, { "title": "NSF N-terminal domain crystal structure: models of NSF function.", "journal": "Molecular cell", "date": "1999", "authors": "Yu RC, Jahn R, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "Two co-existing mechanisms for nuclear import of MAP kinase: passive diffusion of a monomer and active transport of a dimer.", "journal": "The EMBO journal", "date": "1999", "authors": "Adachi M, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10508167", "url": "https://glygen.org/publication/PubMed/10508167" } ] }, { "title": "An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.", "journal": "Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Seemann J, Jokitalo EJ, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10679020", "url": "https://glygen.org/publication/PubMed/10679020" } ] }, { "title": "Decoding of sorting signals by coatomer through a GTPase switch in the COPI coat complex.", "journal": "Cell", "date": "2000", "authors": "Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "title": "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Shao H, Andres DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10869344", "url": "https://glygen.org/publication/PubMed/10869344" } ] }, { "title": "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Allan BB, Moyer BD, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10903204", "url": "https://glygen.org/publication/PubMed/10903204" } ] }, { "title": "COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP.", "journal": "The EMBO journal", "date": "2000", "authors": "Eugster A, Frigerio G, Dale M, Duden R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10921873", "url": "https://glygen.org/publication/PubMed/10921873" } ] }, { "title": "Flt3 ligand induces tyrosine phosphorylation of gab1 and gab2 and their association with shp-2, grb2, and PI3 kinase.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Zhang S, Broxmeyer HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11027663", "url": "https://glygen.org/publication/PubMed/11027663" } ] }, { "title": "The p115-interactive proteins GM130 and giantin participate in endoplasmic reticulum-Golgi traffic.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Alvarez C, Garcia-Mata R, Hauri HP, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11035033", "url": "https://glygen.org/publication/PubMed/11035033" } ] }, { "title": "Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways.", "journal": "Blood", "date": "2000", "authors": "Mizuki M, Fenski R, Halfter H, Matsumura I, Schmidt R, Muller C, Gruning W, Kratz-Albers K, Serve S, Steur C, Buchner T, Kienast J, Kanakura Y, Berdel WE, Serve H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11090077", "url": "https://glygen.org/publication/PubMed/11090077" } ] }, { "title": "Crystal structure and functional analysis of Ras binding to its effector phosphoinositide 3-kinase gamma.", "journal": "Cell", "date": "2000", "authors": "Pacold ME, Suire S, Perisic O, Lara-Gonzalez S, Davis CT, Walker EH, Hawkins PT, Stephens L, Eccleston JF, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11136978", "url": "https://glygen.org/publication/PubMed/11136978" } ] }, { "title": "Functional characterization of novel human ARFGAP3.", "journal": "FEBS letters", "date": "2001", "authors": "Liu X, Zhang C, Xing G, Chen Q, He F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11172815", "url": "https://glygen.org/publication/PubMed/11172815" } ] }, { "title": "Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2001", "authors": "Needham LK, Thelen K, Maness PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "11222639", "url": "https://glygen.org/publication/PubMed/11222639" } ] }, { "title": "Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2001", "authors": "Moyer BD, Allan BB, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11285137", "url": "https://glygen.org/publication/PubMed/11285137" } ] }, { "title": "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b.", "journal": "EMBO reports", "date": "2001", "authors": "Weide T, Bayer M, Koster M, Siebrasse JP, Peters R, Barnekow A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11306556", "url": "https://glygen.org/publication/PubMed/11306556" } ] }, { "title": "A novel potential effector of M-Ras and p21 Ras negatively regulates p21 Ras-mediated gene induction and cell growth.", "journal": "Oncogene", "date": "2001", "authors": "Ehrhardt GR, Korherr C, Wieler JS, Knaus M, Schrader JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11313946", "url": "https://glygen.org/publication/PubMed/11313946" } ] }, { "title": "beta III spectrin binds to the Arp1 subunit of dynactin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11461920", "url": "https://glygen.org/publication/PubMed/11461920" } ] }, { "title": "Evidence for existence of a nuclear pore complex-mediated, cytosol-independent pathway of nuclear translocation of ERK MAP kinase in permeabilized cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsubayashi Y, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11546808", "url": "https://glygen.org/publication/PubMed/11546808" } ] }, { "title": "Chimaerins, novel non-protein kinase C phorbol ester receptors, associate with Tmp21-I (p23): evidence for a novel anchoring mechanism involving the chimaerin C1 domain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wang H, Kazanietz MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11689559", "url": "https://glygen.org/publication/PubMed/11689559" } ] }, { "title": "PEA-15 mediates cytoplasmic sequestration of ERK MAP kinase.", "journal": "Developmental cell", "date": "2001", "authors": "Formstecher E, Ramos JW, Fauquet M, Calderwood DA, Hsieh JC, Canton B, Nguyen XT, Barnier JV, Camonis J, Ginsberg MH, Chneiweiss H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11702783", "url": "https://glygen.org/publication/PubMed/11702783" } ] }, { "title": "KDEL-cargo regulates interactions between proteins involved in COPI vesicle traffic: measurements in living cells using FRET.", "journal": "Developmental cell", "date": "2001", "authors": "Majoul I, Straub M, Hell SW, Duden R, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11703931", "url": "https://glygen.org/publication/PubMed/11703931" } ] }, { "title": "Recruitment to Golgi membranes of ADP-ribosylation factor 1 is mediated by the cytoplasmic domain of p23.", "journal": "The EMBO journal", "date": "2001", "authors": "Gommel DU, Memon AR, Heiss A, Lottspeich F, Pfannstiel J, Lechner J, Reinhard C, Helms JB, Nickel W, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11726511", "url": "https://glygen.org/publication/PubMed/11726511" } ] }, { "title": "Sorting of Golgi resident proteins into different subpopulations of COPI vesicles: a role for ArfGAP1.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Lanoix J, Ouwendijk J, Stark A, Szafer E, Cassel D, Dejgaard K, Weiss M, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11748249", "url": "https://glygen.org/publication/PubMed/11748249" } ] }, { "title": "ERK2 enters the nucleus by a carrier-independent mechanism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Whitehurst AW, Wilsbacher JL, You Y, Luby-Phelps K, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12032311", "url": "https://glygen.org/publication/PubMed/12032311" } ] }, { "title": "GBF1, a guanine nucleotide exchange factor for ADP-ribosylation factors, is localized to the cis-Golgi and involved in membrane association of the COPI coat.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2002", "authors": "Kawamoto K, Yoshida Y, Tamaki H, Torii S, Shinotsuka C, Yamashina S, Nakayama K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "12047556", "url": "https://glygen.org/publication/PubMed/12047556" } ] }, { "title": "Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Muller JM, Shorter J, Newman R, Deinhardt K, Sagiv Y, Elazar Z, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "12070132", "url": "https://glygen.org/publication/PubMed/12070132" } ] }, { "title": "The phosphatidylinositol 3-Kinase AKT pathway in human cancer.", "journal": "Nature reviews. Cancer", "date": "2002", "authors": "Vivanco I, Sawyers CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12094235", "url": "https://glygen.org/publication/PubMed/12094235" } ] }, { "title": "Activation of phosphoinositide 3-kinase gamma by Ras.", "journal": "Current biology : CB", "date": "2002", "authors": "Suire S, Hawkins P, Stephens L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12121613", "url": "https://glygen.org/publication/PubMed/12121613" } ] }, { "title": "GS15 forms a SNARE complex with syntaxin 5, GS28, and Ykt6 and is implicated in traffic in the early cisternae of the Golgi apparatus.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Xu Y, Martin S, James DE, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "12388752", "url": "https://glygen.org/publication/PubMed/12388752" } ] }, { "title": "The membrane-tethering protein p115 interacts with GBF1, an ARF guanine-nucleotide-exchange factor.", "journal": "EMBO reports", "date": "2003", "authors": "Garcia-Mata R, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "12634853", "url": "https://glygen.org/publication/PubMed/12634853" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Cellular signalling mechanisms of neural cell adhesion molecules.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2003", "authors": "Panicker AK, Buhusi M, Thelen K, Maness PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165" } ], "reference": [ { "type": "PubMed", "id": "12700044", "url": "https://glygen.org/publication/PubMed/12700044" } ] }, { "title": "PEA-15 binding to ERK1/2 MAPKs is required for its modulation of integrin activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chou FL, Hill JM, Hsieh JC, Pouyssegur J, Brunet A, Glading A, Uberall F, Ramos JW, Werner MH, Ginsberg MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14506247", "url": "https://glygen.org/publication/PubMed/14506247" } ] }, { "title": "Lipid packing sensed by ArfGAP1 couples COPI coat disassembly to membrane bilayer curvature.", "journal": "Nature", "date": "2003", "authors": "Bigay J, Gounon P, Robineau S, Antonny B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "14654841", "url": "https://glygen.org/publication/PubMed/14654841" } ] }, { "title": "The death effector domain protein PEA-15 prevents nuclear entry of ERK2 by inhibiting required interactions.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Whitehurst AW, Robinson FL, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14707138", "url": "https://glygen.org/publication/PubMed/14707138" } ] }, { "title": "Countercurrent distribution of two distinct SNARE complexes mediating transport within the Golgi stack.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Volchuk A, Ravazzola M, Perrelet A, Eng WS, Di Liberto M, Varlamov O, Fukasawa M, Engel T, Sollner TH, Rothman JE, Orci L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "14742712", "url": "https://glygen.org/publication/PubMed/14742712" } ] }, { "title": "Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.", "journal": "Journal of structural biology", "date": "2004", "authors": "Whiteheart SW, Matveeva EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "15037235", "url": "https://glygen.org/publication/PubMed/15037235" } ] }, { "title": "Structural insights into the stability and flexibility of unusual erythroid spectrin repeats.", "journal": "Structure", "date": "2004", "authors": "Kusunoki Hideki, MacDonald Ruby I, Mondrag\u00f3n Alfonso", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "15062087", "url": "https://glygen.org/publication/PubMed/15062087" } ] }, { "title": "In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner.", "journal": "Biochemistry", "date": "2004", "authors": "Tang HY, Speicher DW", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "reference": [ { "type": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" } ] }, { "title": "Phosphorylation of Grb2-associated binder 2 on serine 623 by ERK MAPK regulates its association with the phosphatase SHP-2 and decreases STAT5 activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Arnaud M, Crouin C, Deon C, Loyaux D, Bertoglio J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15356145", "url": "https://glygen.org/publication/PubMed/15356145" } ] }, { "title": "Nuclear localization and regulation of erk- and rsk-encoded protein kinases.", "journal": "Molecular and cellular biology", "date": "1992", "authors": "Chen RH, Sarnecki C, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1545823", "url": "https://glygen.org/publication/PubMed/1545823" } ] }, { "title": "Live Cell Imaging of ERK and MEK: simple binding equilibrium explains the regulated nucleocytoplasmic distribution of ERK.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Burack WR, Shaw AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15546878", "url": "https://glygen.org/publication/PubMed/15546878" } ] }, { "title": "Dynamics of GBF1, a Brefeldin A-sensitive Arf1 exchange factor at the Golgi.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Niu TK, Pfeifer AC, Lippincott-Schwartz J, Jackson CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "15616190", "url": "https://glygen.org/publication/PubMed/15616190" } ] }, { "title": "Live imaging of bidirectional traffic from the ERGIC.", "journal": "Journal of cell science", "date": "2005", "authors": "Ben-Tekaya H, Miura K, Pepperkok R, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "15632110", "url": "https://glygen.org/publication/PubMed/15632110" } ] }, { "title": "Cog3p depletion blocks vesicle-mediated Golgi retrograde trafficking in HeLa cells.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Zolov SN, Lupashin VV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "15728195", "url": "https://glygen.org/publication/PubMed/15728195" } ] }, { "title": "Dissection of membrane dynamics of the ARF-guanine nucleotide exchange factor GBF1.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2005", "authors": "Szul T, Garcia-Mata R, Brandon E, Shestopal S, Alvarez C, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "15813748", "url": "https://glygen.org/publication/PubMed/15813748" } ] }, { "title": "A cryptic Rab1-binding site in the p115 tethering protein.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Beard M, Satoh A, Shorter J, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "15878873", "url": "https://glygen.org/publication/PubMed/15878873" } ] }, { "title": "Isoform-selective effects of the depletion of ADP-ribosylation factors 1-5 on membrane traffic.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Volpicelli-Daley LA, Li Y, Zhang CJ, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "16030262", "url": "https://glygen.org/publication/PubMed/16030262" } ] }, { "title": "ADP-ribosylation factor, a small GTP-binding protein, is required for binding of the coatomer protein beta-COP to Golgi membranes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Donaldson JG, Cassel D, Kahn RA, Klausner RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "1631136", "url": "https://glygen.org/publication/PubMed/1631136" } ] }, { "title": "MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growth.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Whittard JD, Sakurai T, Cassella MR, Gazdoiu M, Felsenfeld DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "16597699", "url": "https://glygen.org/publication/PubMed/16597699" } ] }, { "title": "Roles of tyrosine 589 and 591 in STAT5 activation and transformation mediated by FLT3-ITD.", "journal": "Blood", "date": "2006", "authors": "Rocnik JL, Okabe R, Yu JC, Lee BH, Giese N, Schenkein DP, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16627759", "url": "https://glygen.org/publication/PubMed/16627759" } ] }, { "title": "ARF proteins: roles in membrane traffic and beyond.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "D'Souza-Schorey C, Chavrier P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "16633337", "url": "https://glygen.org/publication/PubMed/16633337" } ] }, { "title": "Identification of Y589 and Y599 in the juxtamembrane domain of Flt3 as ligand-induced autophosphorylation sites involved in binding of Src family kinases and the protein tyrosine phosphatase SHP2.", "journal": "Blood", "date": "2006", "authors": "Heiss E, Masson K, Sundberg C, Pedersen M, Sun J, Bengtsson S, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16684964", "url": "https://glygen.org/publication/PubMed/16684964" } ] }, { "title": "The ER-Golgi intermediate compartment (ERGIC): in search of its identity and function.", "journal": "Journal of cell science", "date": "2006", "authors": "Appenzeller-Herzog C, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "16723730", "url": "https://glygen.org/publication/PubMed/16723730" } ] }, { "title": "ADP-ribosylation factor is a subunit of the coat of Golgi-derived COP-coated vesicles: a novel role for a GTP-binding protein.", "journal": "Cell", "date": "1991", "authors": "Serafini T, Orci L, Amherdt M, Brunner M, Kahn RA, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "1680566", "url": "https://glygen.org/publication/PubMed/1680566" } ] }, { "title": "Phosphorylation of L1-type cell-adhesion molecules--ankyrins away!", "journal": "Trends in biochemical sciences", "date": "2006", "authors": "Nagaraj K, Hortsch M", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "16904324", "url": "https://glygen.org/publication/PubMed/16904324" } ] }, { "title": "SNAREs--engines for membrane fusion.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "Jahn R, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "16912714", "url": "https://glygen.org/publication/PubMed/16912714" } ] }, { "title": "GBF1, a cis-Golgi and VTCs-localized ARF-GEF, is implicated in ER-to-Golgi protein traffic.", "journal": "Journal of cell science", "date": "2006", "authors": "Zhao X, Claude A, Chun J, Shields DJ, Presley JF, Melancon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "16926190", "url": "https://glygen.org/publication/PubMed/16926190" } ] }, { "title": "Coatomer, the coat protein of COPI transport vesicles, discriminates endoplasmic reticulum residents from p24 proteins.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Bethune J, Kol M, Hoffmann J, Reckmann I, Brugger B, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "16940185", "url": "https://glygen.org/publication/PubMed/16940185" } ] }, { "title": "Association of p21ras with phosphatidylinositol 3-kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Sjolander A, Yamamoto K, Huber BE, Lapetina EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1716764", "url": "https://glygen.org/publication/PubMed/1716764" } ] }, { "title": "betaIV-spectrin forms a diffusion barrier against L1CAM at the axon initial segment.", "journal": "Molecular and cellular neurosciences", "date": "2007", "authors": "Nishimura K, Akiyama H, Komada M, Kamiguchi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "17223356", "url": "https://glygen.org/publication/PubMed/17223356" } ] }, { "title": "Two lipid-packing sensor motifs contribute to the sensitivity of ArfGAP1 to membrane curvature.", "journal": "Biochemistry", "date": "2007", "authors": "Mesmin B, Drin G, Levi S, Rawet M, Cassel D, Bigay J, Antonny B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17253781", "url": "https://glygen.org/publication/PubMed/17253781" } ] }, { "title": "The interaction of two tethering factors, p115 and COG complex, is required for Golgi integrity.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Sohda M, Misumi Y, Yoshimura S, Nakamura N, Fusano T, Ogata S, Sakisaka S, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17274799", "url": "https://glygen.org/publication/PubMed/17274799" } ] }, { "title": "Differential localization of coatomer complex isoforms within the Golgi apparatus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Moelleken J, Malsam J, Betts MJ, Movafeghi A, Reckmann I, Meissner I, Hellwig A, Russell RB, Sollner T, Brugger B, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17360540", "url": "https://glygen.org/publication/PubMed/17360540" } ] }, { "title": "Rab1b interacts with GBF1 and modulates both ARF1 dynamics and COPI association.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Monetta P, Slavin I, Romero N, Alvarez C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17429068", "url": "https://glygen.org/publication/PubMed/17429068" } ] }, { "title": "Multiple and stepwise interactions between coatomer and ADP-ribosylation factor-1 (Arf1)-GTP.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Sun Z, Anderl F, Frohlich K, Zhao L, Hanke S, Brugger B, Wieland F, Bethune J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17451557", "url": "https://glygen.org/publication/PubMed/17451557" } ] }, { "title": "Two human ARFGAPs associated with COP-I-coated vesicles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Frigerio G, Grimsey N, Dale M, Majoul I, Duden R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17760859", "url": "https://glygen.org/publication/PubMed/17760859" } ] }, { "title": "Mammalian GPI-anchored proteins require p24 proteins for their efficient transport from the ER to the plasma membrane.", "journal": "The Biochemical journal", "date": "2008", "authors": "Takida S, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17927562", "url": "https://glygen.org/publication/PubMed/17927562" } ] }, { "title": "Dissecting the role of the ARF guanine nucleotide exchange factor GBF1 in Golgi biogenesis and protein trafficking.", "journal": "Journal of cell science", "date": "2007", "authors": "Szul T, Grabski R, Lyons S, Morohashi Y, Shestopal S, Lowe M, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "17956946", "url": "https://glygen.org/publication/PubMed/17956946" } ] }, { "title": "Oncogenic signaling of class I PI3K isoforms.", "journal": "Oncogene", "date": "2008", "authors": "Denley A, Kang S, Karst U, Vogt PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "17998941", "url": "https://glygen.org/publication/PubMed/17998941" } ] }, { "title": "Interaction of the conserved oligomeric Golgi complex with t-SNARE Syntaxin5a/Sed5 enhances intra-Golgi SNARE complex stability.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Shestakova A, Suvorova E, Pavliv O, Khaidakova G, Lupashin V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "18086915", "url": "https://glygen.org/publication/PubMed/18086915" } ] }, { "title": "A conformational change in the alpha-subunit of coatomer induced by ligand binding to gamma-COP revealed by single-pair FRET.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2008", "authors": "Langer JD, Roth CM, Bethune J, Stoops EH, Brugger B, Herten DP, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "18182008", "url": "https://glygen.org/publication/PubMed/18182008" } ] }, { "title": "The yeast p24 complex is required for the formation of COPI retrograde transport vesicles from the Golgi apparatus.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Aguilera-Romero A, Kaminska J, Spang A, Riezman H, Muniz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "18283113", "url": "https://glygen.org/publication/PubMed/18283113" } ] }, { "title": "A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Gallagher P G, Tse W T, Costa F, Scarpa A, Boivin P, Delaunay J, Forget B G", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "1840591", "url": "https://glygen.org/publication/PubMed/1840591" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Characterization of class I and II ADP-ribosylation factors (Arfs) in live cells: GDP-bound class II Arfs associate with the ER-Golgi intermediate compartment independently of GBF1.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Chun J, Shapovalova Z, Dejgaard SY, Presley JF, Melancon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "18524849", "url": "https://glygen.org/publication/PubMed/18524849" } ] }, { "title": "Essential role of ERK dimers in the activation of cytoplasmic but not nuclear substrates by ERK-scaffold complexes.", "journal": "Molecular cell", "date": "2008", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "18775330", "url": "https://glygen.org/publication/PubMed/18775330" } ] }, { "title": "Consensus nomenclature for the human ArfGAP domain-containing proteins.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Kahn RA, Bruford E, Inoue H, Logsdon JM Jr, Nie Z, Premont RT, Randazzo PA, Satake M, Theibert AB, Zapp ML, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "18809720", "url": "https://glygen.org/publication/PubMed/18809720" } ] }, { "title": "Site-specific GlcNAcylation of human erythrocyte proteins: potential biomarker(s) for diabetes.", "journal": "Diabetes", "date": "2009", "authors": "Wang Z, Park K, Comer F, Hsieh-Wilson LC, Saudek CD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "database": "O-GlcNAc Atlas", "id": "P11277", "url": "https://oglcnac.org/atlas/detail/P11277" }, { "database": "GlyConnect", "id": "2860", "url": "https://glyconnect.expasy.org/browser/proteins/2860" } ], "reference": [ { "type": "PubMed", "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734" } ] }, { "title": "The GTPase superfamily: conserved structure and molecular mechanism.", "journal": "Nature", "date": "1991", "authors": "Bourne HR, Sanders DA, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1898771", "url": "https://glygen.org/publication/PubMed/1898771" } ] }, { "title": "'Coatomer': a cytosolic protein complex containing subunits of non-clathrin-coated Golgi transport vesicles.", "journal": "Nature", "date": "1991", "authors": "Waters MG, Serafini T, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "1898986", "url": "https://glygen.org/publication/PubMed/1898986" } ] }, { "title": "Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Weimer C, Beck R, Eckert P, Reckmann I, Moelleken J, Brugger B, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "19015319", "url": "https://glygen.org/publication/PubMed/19015319" } ] }, { "title": "Discrete determinants in ArfGAP2/3 conferring Golgi localization and regulation by the COPI coat.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Kliouchnikov L, Bigay J, Mesmin B, Parnis A, Rawet M, Goldfeder N, Antonny B, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "19109418", "url": "https://glygen.org/publication/PubMed/19109418" } ] }, { "title": "Membrane fusion: grappling with SNARE and SM proteins.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Sudhof TC, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "19164740", "url": "https://glygen.org/publication/PubMed/19164740" } ] }, { "title": "ERK dimers and scaffold proteins: unexpected partners for a forgotten (cytoplasmic) task.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2009", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19279408", "url": "https://glygen.org/publication/PubMed/19279408" } ] }, { "title": "Arf GAP2 is positively regulated by coatomer and cargo.", "journal": "Cellular signalling", "date": "2009", "authors": "Luo R, Ha VL, Hayashi R, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "19296914", "url": "https://glygen.org/publication/PubMed/19296914" } ] }, { "title": "Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.", "journal": "Br. J. Haematol.", "date": "2009", "authors": "Maciag Monika, P\u0142ochocka Danuta, Adamowicz-Salach Anna, Burzy\u0144ska Beata", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "19538529", "url": "https://glygen.org/publication/PubMed/19538529" } ] }, { "title": "Binding of ARF and beta-COP to Golgi membranes: possible regulation by a trimeric G protein.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Donaldson JG, Kahn RA, Lippincott-Schwartz J, Klausner RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "1957170", "url": "https://glygen.org/publication/PubMed/1957170" } ] }, { "title": "The COPI system: molecular mechanisms and function.", "journal": "FEBS letters", "date": "2009", "authors": "Beck R, Rawet M, Wieland FT, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "19631211", "url": "https://glygen.org/publication/PubMed/19631211" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.", "journal": "The Journal of clinical investigation", "date": "1990", "authors": "Tse WT, Lecomte MC, Costa FF, Garbarz M, Feo C, Boivin P, Dhermy D, Forget BG", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "1975598", "url": "https://glygen.org/publication/PubMed/1975598" } ] }, { "title": "A link between ER tethering and COP-I vesicle uncoating.", "journal": "Developmental cell", "date": "2009", "authors": "Zink S, Wenzel D, Wurm CA, Schmitt HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "19758564", "url": "https://glygen.org/publication/PubMed/19758564" } ] }, { "title": "Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism.", "journal": "Gene", "date": "1990", "authors": "Yoon S H, Kentros C G, Prchal J T", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "1976574", "url": "https://glygen.org/publication/PubMed/1976574" } ] }, { "title": "ERK nuclear translocation is dimerization-independent but controlled by the rate of phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lidke DS, Huang F, Post JN, Rieger B, Wilsbacher J, Thomas JL, Pouyssegur J, Jovin TM, Lenormand P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19920141", "url": "https://glygen.org/publication/PubMed/19920141" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Arf3 is activated uniquely at the trans-Golgi network by brefeldin A-inhibited guanine nucleotide exchange factors.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Manolea F, Chun J, Chen DW, Clarke I, Summerfeldt N, Dacks JB, Melancon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "20357002", "url": "https://glygen.org/publication/PubMed/20357002" } ] }, { "title": "Selective export of human GPI-anchored proteins from the endoplasmic reticulum.", "journal": "Journal of cell science", "date": "2010", "authors": "Bonnon C, Wendeler MW, Paccaud JP, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "20427317", "url": "https://glygen.org/publication/PubMed/20427317" } ] }, { "title": "RalGDS family members couple Ras to Ral signalling and that's not all.", "journal": "Cellular signalling", "date": "2010", "authors": "Ferro E, Trabalzini L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "20478380", "url": "https://glygen.org/publication/PubMed/20478380" } ] }, { "title": "Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.", "journal": "J. Clin. Invest.", "date": "1991", "authors": "Garbarz M, Tse W T, Gallagher P G, Picat C, Lecomte M C, Galibert F, Dhermy D, Forget B G", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "2056132", "url": "https://glygen.org/publication/PubMed/2056132" } ] }, { "title": "Models for the functions of Arf GAPs.", "journal": "Seminars in cell & developmental biology", "date": "2011", "authors": "East MP, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "20637885", "url": "https://glygen.org/publication/PubMed/20637885" } ] }, { "title": "Ras superfamily GEFs and GAPs: validated and tractable targets for cancer therapy?", "journal": "Nature reviews. Cancer", "date": "2010", "authors": "Vigil D, Cherfils J, Rossman KL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21102635", "url": "https://glygen.org/publication/PubMed/21102635" } ] }, { "title": "Proteinase-activated receptors, nucleotide P2Y receptors, and mu-opioid receptor-1B are under the control of the type I transmembrane proteins p23 and p24A in post-Golgi trafficking.", "journal": "Journal of neurochemistry", "date": "2011", "authors": "Luo W, Wang Y, Reiser G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "21219331", "url": "https://glygen.org/publication/PubMed/21219331" } ] }, { "title": "Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases.", "journal": "Microbiology and molecular biology reviews : MMBR", "date": "2011", "authors": "Cargnello M, Roux PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21372320", "url": "https://glygen.org/publication/PubMed/21372320" } ] }, { "title": "Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF).", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Zhao C, Smith EC, Whiteheart SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "21689688", "url": "https://glygen.org/publication/PubMed/21689688" } ] }, { "title": "RAS Interaction with PI3K: More Than Just Another Effector Pathway.", "journal": "Genes & cancer", "date": "2011", "authors": "Castellano E, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779497", "url": "https://glygen.org/publication/PubMed/21779497" } ] }, { "title": "Therapeutic strategies for targeting ras proteins.", "journal": "Genes & cancer", "date": "2011", "authors": "Gysin S, Salt M, Young A, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779505", "url": "https://glygen.org/publication/PubMed/21779505" } ] }, { "title": "COPI budding within the Golgi stack.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2011", "authors": "Popoff V, Adolf F, Brugger B, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "21844168", "url": "https://glygen.org/publication/PubMed/21844168" } ] }, { "title": "Full-length sequence of the cDNA for human erythroid beta-spectrin.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Winkelmann J C, Chang J G, Tse W T, Scarpa A L, Marchesi V T, Forget B G", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "2195026", "url": "https://glygen.org/publication/PubMed/2195026" } ] }, { "title": "RAS oncogenes: weaving a tumorigenic web.", "journal": "Nature reviews. Cancer", "date": "2011", "authors": "Pylayeva-Gupta Y, Grabocka E, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21993244", "url": "https://glygen.org/publication/PubMed/21993244" } ] }, { "title": "COPII and COPI traffic at the ER-Golgi interface.", "journal": "Physiology (Bethesda, Md.)", "date": "2011", "authors": "Szul T, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "22013193", "url": "https://glygen.org/publication/PubMed/22013193" } ] }, { "title": "p24 proteins are required for secretion of Wnt ligands.", "journal": "EMBO reports", "date": "2011", "authors": "Buechling T, Chaudhary V, Spirohn K, Weiss M, Boutros M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "22094269", "url": "https://glygen.org/publication/PubMed/22094269" } ] }, { "title": "A structure-based mechanism for Arf1-dependent recruitment of coatomer to membranes.", "journal": "Cell", "date": "2012", "authors": "Yu X, Breitman M, Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "22304919", "url": "https://glygen.org/publication/PubMed/22304919" } ] }, { "title": "Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Winkelmann J C, Costa F F, Linzie B L, Forget B G", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "2243099", "url": "https://glygen.org/publication/PubMed/2243099" } ] }, { "title": "ERK1/2 MAP kinases: structure, function, and regulation.", "journal": "Pharmacological research", "date": "2012", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22569528", "url": "https://glygen.org/publication/PubMed/22569528" } ] }, { "title": "A comprehensive survey of Ras mutations in cancer.", "journal": "Cancer research", "date": "2012", "authors": "Prior IA, Lewis PD, Mattos C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22589270", "url": "https://glygen.org/publication/PubMed/22589270" } ] }, { "title": "Probing the GTPase cycle with real-time NMR: GAP and GEF activities in cell extracts.", "journal": "Methods (San Diego, Calif.)", "date": "2012", "authors": "Marshall CB, Meiri D, Smith MJ, Mazhab-Jafari MT, Gasmi-Seabrook GM, Rottapel R, Stambolic V, Ikura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22750304", "url": "https://glygen.org/publication/PubMed/22750304" } ] }, { "title": "The protein tyrosine phosphatase, Shp2, positively contributes to FLT3-ITD-induced hematopoietic progenitor hyperproliferation and malignant disease in vivo.", "journal": "Leukemia", "date": "2013", "authors": "Nabinger SC, Li XJ, Ramdas B, He Y, Zhang X, Zeng L, Richine B, Bowling JD, Fukuda S, Goenka S, Liu Z, Feng GS, Yu M, Sandusky GE, Boswell HS, Zhang ZY, Kapur R, Chan RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23103841", "url": "https://glygen.org/publication/PubMed/23103841" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Regulation of small GTPases by GEFs, GAPs, and GDIs.", "journal": "Physiological reviews", "date": "2013", "authors": "Cherfils J, Zeghouf M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23303910", "url": "https://glygen.org/publication/PubMed/23303910" } ] }, { "title": "Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis.", "journal": "Science signaling", "date": "2013", "authors": "King PD, Lubeck BA, Lapinski PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23443682", "url": "https://glygen.org/publication/PubMed/23443682" } ] }, { "title": "Structure of ERK2 bound to PEA-15 reveals a mechanism for rapid release of activated MAPK.", "journal": "Nature communications", "date": "2013", "authors": "Mace PD, Wallez Y, Egger MF, Dobaczewska MK, Robinson H, Pasquale EB, Riedl SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23575685", "url": "https://glygen.org/publication/PubMed/23575685" } ] }, { "title": "The Golgi puppet master: COG complex at center stage of membrane trafficking interactions.", "journal": "Histochemistry and cell biology", "date": "2013", "authors": "Willett R, Ungar D, Lupashin V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "23839779", "url": "https://glygen.org/publication/PubMed/23839779" } ] }, { "title": "Tethering the assembly of SNARE complexes.", "journal": "Trends in cell biology", "date": "2014", "authors": "Hong W, Lev S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "24119662", "url": "https://glygen.org/publication/PubMed/24119662" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "iPTMnet", "id": "P11277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11277" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transport.", "journal": "Journal of cell science", "date": "2014", "authors": "Ong YS, Tran TH, Gounko NV, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "24806965", "url": "https://glygen.org/publication/PubMed/24806965" } ] }, { "title": "PI3K/AKT signaling pathway and cancer: an updated review.", "journal": "Annals of medicine", "date": "2014", "authors": "Martini M, De Santis MC, Braccini L, Gulluni F, Hirsch E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24897931", "url": "https://glygen.org/publication/PubMed/24897931" } ] }, { "title": "`RAF` neighborhood: protein-protein interaction in the Raf/Mek/Erk pathway.", "journal": "FEBS letters", "date": "2014", "authors": "Cseh B, Doma E, Baccarini M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24937142", "url": "https://glygen.org/publication/PubMed/24937142" } ] }, { "title": "Ral small GTPase signaling and oncogenesis: More than just 15minutes of fame.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Gentry LR, Martin TD, Reiner DJ, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25219551", "url": "https://glygen.org/publication/PubMed/25219551" } ] }, { "title": "Diverse roles for the p24 family of proteins in eukaryotic cells.", "journal": "Biomolecular concepts", "date": "2012", "authors": "Schuiki I, Volchuk A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "25436559", "url": "https://glygen.org/publication/PubMed/25436559" } ] }, { "title": "Three alphaSNAP and 10 ATP molecules are used in SNARE complex disassembly by N-ethylmaleimide-sensitive factor (NSF).", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shah N, Colbert KN, Enos MD, Herschlag D, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "25492864", "url": "https://glygen.org/publication/PubMed/25492864" } ] }, { "title": "Ras activation revisited: role of GEF and GAP systems.", "journal": "Biological chemistry", "date": "2015", "authors": "Hennig A, Markwart R, Esparza-Franco MA, Ladds G, Rubio I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25781681", "url": "https://glygen.org/publication/PubMed/25781681" } ] }, { "title": "The Key Role of Calmodulin in KRAS-Driven Adenocarcinomas.", "journal": "Molecular cancer research : MCR", "date": "2015", "authors": "Nussinov R, Muratcioglu S, Tsai CJ, Jang H, Gursoy A, Keskin O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "26085527", "url": "https://glygen.org/publication/PubMed/26085527" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Targeting Ras with Macromolecules.", "journal": "Cold Spring Harbor perspectives in medicine", "date": "2018", "authors": "Pei D, Chen K, Liao H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "28778966", "url": "https://glygen.org/publication/PubMed/28778966" } ] }, { "title": "A protease cascade regulates release of the human malaria parasite Plasmodium falciparum from host red blood cells.", "journal": "Nature microbiology", "date": "2018", "authors": "Thomas JA, Tan MSY, Bisson C, Borg A, Umrekar TR, Hackett F, Hale VL, Vizcay-Barrena G, Fleck RA, Snijders AP, Saibil HR, Blackman MJ", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "29459732", "url": "https://glygen.org/publication/PubMed/29459732" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" }, { "database": "O-GlcNAc Atlas", "id": "P11277", "url": "https://oglcnac.org/atlas/detail/P11277" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "The structural basis for Ras activation of PI3Kalpha lipid kinase.", "journal": "Physical chemistry chemical physics : PCCP", "date": "2019", "authors": "Zhang M, Jang H, Nussinov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "31135801", "url": "https://glygen.org/publication/PubMed/31135801" } ] }, { "title": "Molecular cloning of the cDNA for human erythrocyte beta-spectrin.", "journal": "Blood", "date": "1988", "authors": "Winkelmann J C, Leto T L, Watkins P C, Eddy R, Shows T B, Linnenbach A J, Sahr K E, Kathuria N, Marchesi V T, Forget B G", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "3390609", "url": "https://glygen.org/publication/PubMed/3390609" } ] }, { "title": "Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Prchal J T, Morley B J, Yoon S H, Coetzer T L, Palek J, Conboy J G, Kan Y W", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "3478706", "url": "https://glygen.org/publication/PubMed/3478706" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11277", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11277" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Gibbs JB, Sigal IS, Poe M, Scolnick EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "6148751", "url": "https://glygen.org/publication/PubMed/6148751" } ] }, { "title": "Erythrocyte spectrin is comprised of many homologous triple helical segments.", "journal": "Nature", "date": "1984", "authors": "Speicher D W, Marchesi V T", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "6472478", "url": "https://glygen.org/publication/PubMed/6472478" } ] }, { "title": "Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa.", "journal": "Molecular biology of the cell", "date": "1993", "authors": "Linstedt AD, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "7691276", "url": "https://glygen.org/publication/PubMed/7691276" } ] }, { "title": "Identification of the guanine nucleotide dissociation stimulator for Ral as a putative effector molecule of R-ras, H-ras, K-ras, and Rap.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Spaargaren M, Bischoff JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7809086", "url": "https://glygen.org/publication/PubMed/7809086" } ] }, { "title": "Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.", "journal": "The Journal of clinical investigation", "date": "1995", "authors": "Gallagher PG, Weed SA, Tse WT, Benoit L, Morrow JS, Marchesi SL, Mohandas N, Forget BG", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "7883966", "url": "https://glygen.org/publication/PubMed/7883966" } ] }, { "title": "ralGDS family members interact with the effector loop of ras p21.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Kikuchi A, Demo SD, Ye ZH, Chen YW, Williams LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7935463", "url": "https://glygen.org/publication/PubMed/7935463" } ] }, { "title": "Activated Ras interacts with the Ral guanine nucleotide dissociation stimulator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Hofer F, Fields S, Schneider C, Martin GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7972015", "url": "https://glygen.org/publication/PubMed/7972015" } ] }, { "title": "Integrin-mediated signal transduction linked to Ras pathway by GRB2 binding to focal adhesion kinase.", "journal": "Nature", "date": "1994", "authors": "Schlaepfer DD, Hanks SK, Hunter T, van der Geer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165" } ], "reference": [ { "type": "PubMed", "id": "7997267", "url": "https://glygen.org/publication/PubMed/7997267" } ] }, { "title": "Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum.", "journal": "Cell", "date": "1994", "authors": "Letourneur F, Gaynor EC, Hennecke S, Demolliere C, Duden R, Emr SD, Riezman H, Cosson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8001155", "url": "https://glygen.org/publication/PubMed/8001155" } ] }, { "title": "Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.", "journal": "Blood", "date": "1994", "authors": "Parquet N, Devaux I, Boulanger L, Galand C, Boivin P, Lecomte MC, Dhermy D, Garbarz M", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "8018926", "url": "https://glygen.org/publication/PubMed/8018926" } ] }, { "title": "Phosphatidylinositol-3-OH kinase as a direct target of Ras.", "journal": "Nature", "date": "1994", "authors": "Rodriguez-Viciana P, Warne PH, Dhand R, Vanhaesebroeck B, Gout I, Fry MJ, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8052307", "url": "https://glygen.org/publication/PubMed/8052307" } ] }, { "title": "Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Becker PS, Tse WT, Lux SE, Forget BG", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "8102379", "url": "https://glygen.org/publication/PubMed/8102379" } ] }, { "title": "Coatomer interaction with di-lysine endoplasmic reticulum retention motifs.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Cosson P, Letourneur F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8128252", "url": "https://glygen.org/publication/PubMed/8128252" } ] }, { "title": "En bloc incorporation of coatomer subunits during the assembly of COP-coated vesicles.", "journal": "The Journal of cell biology", "date": "1994", "authors": "Hara-Kuge S, Kuge O, Orci L, Amherdt M, Ravazzola M, Wieland FT, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8132710", "url": "https://glygen.org/publication/PubMed/8132710" } ] }, { "title": "A protein assembly-disassembly pathway in vitro that may correspond to sequential steps of synaptic vesicle docking, activation, and fusion.", "journal": "Cell", "date": "1993", "authors": "Sollner T, Bennett MK, Whiteheart SW, Scheller RH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8221884", "url": "https://glygen.org/publication/PubMed/8221884" } ] }, { "title": "Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sahr KE, Coetzer TL, Moy LS, Derick LH, Chishti AH, Jarolim P, Lorenzo F, Miraglia del Giudice E, Iolascon A, Gallanello R, et al.", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "8226774", "url": "https://glygen.org/publication/PubMed/8226774" } ] }, { "title": "Hydrolysis of bound GTP by ARF protein triggers uncoating of Golgi-derived COP-coated vesicles.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Tanigawa G, Orci L, Amherdt M, Ravazzola M, Helms JB, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8253837", "url": "https://glygen.org/publication/PubMed/8253837" } ] }, { "title": "Growth factors induce nuclear translocation of MAP kinases (p42mapk and p44mapk) but not of their activator MAP kinase kinase (p45mapkk) in fibroblasts.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Lenormand P, Sardet C, Pages G, L'Allemain G, Brunet A, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8394845", "url": "https://glygen.org/publication/PubMed/8394845" } ] }, { "title": "Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Chardin P, Camonis JH, Gale NW, van Aelst L, Schlessinger J, Wigler MH, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165" } ], "reference": [ { "type": "PubMed", "id": "8493579", "url": "https://glygen.org/publication/PubMed/8493579" } ] }, { "title": "Binding of coatomer to Golgi membranes requires ADP-ribosylation factor.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Palmer DJ, Helms JB, Beckers CJ, Orci L, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8505331", "url": "https://glygen.org/publication/PubMed/8505331" } ] }, { "title": "Sec18p (NSF)-driven release of Sec17p (alpha-SNAP) can precede docking and fusion of yeast vacuoles.", "journal": "Cell", "date": "1996", "authors": "Mayer A, Wickner W, Haas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8620540", "url": "https://glygen.org/publication/PubMed/8620540" } ] }, { "title": "A v-SNARE implicated in intra-Golgi transport.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Nagahama M, Orci L, Ravazzola M, Amherdt M, Lacomis L, Tempst P, Rothman JE, Sollner TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8636227", "url": "https://glygen.org/publication/PubMed/8636227" } ] }, { "title": "Activation of phosphoinositide 3-kinase by interaction with Ras and by point mutation.", "journal": "The EMBO journal", "date": "1996", "authors": "Rodriguez-Viciana P, Warne PH, Vanhaesebroeck B, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8665852", "url": "https://glygen.org/publication/PubMed/8665852" } ] }, { "title": "RalGDS-like factor (Rlf) is a novel Ras and Rap 1A-associating protein.", "journal": "Oncogene", "date": "1996", "authors": "Wolthuis RM, Bauer B, van 't Veer LJ, de Vries-Smits AM, Cool RH, Spaargaren M, Wittinghofer A, Burgering BM, Bos JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8710374", "url": "https://glygen.org/publication/PubMed/8710374" } ] }, { "title": "Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.", "journal": "Hum. Mutat.", "date": "1996", "authors": "Maillet P, Alloisio N, Morl\u00e9 L, Delaunay J", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "8844207", "url": "https://glygen.org/publication/PubMed/8844207" } ] }, { "title": "Identification of a novel RalGDS-related protein as a candidate effector for Ras and Rap1.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL, Martelli P, Lapetina EG, Der CJ, White GC 2nd", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8939933", "url": "https://glygen.org/publication/PubMed/8939933" } ] }, { "title": "Centractin (ARP1) associates with spectrin revealing a potential mechanism to link dynactin to intracellular organelles.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Holleran EA, Tokito MK, Karki S, Holzbaur EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "8991093", "url": "https://glygen.org/publication/PubMed/8991093" } ] }, { "title": "Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1997-01-15", "authors": "Gallagher P G, Petruzzi M J, Weed S A, Zhang Z, Marchesi S L, Mohandas N, Morrow J S, Forget B G", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "reference": [ { "type": "PubMed", "id": "9005995", "url": "https://glygen.org/publication/PubMed/9005995" } ] }, { "title": "Direct and GTP-dependent interaction of ADP ribosylation factor 1 with coatomer subunit beta.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Zhao L, Helms JB, Brugger B, Harter C, Martoglio B, Graf R, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9114004", "url": "https://glygen.org/publication/PubMed/9114004" } ] }, { "title": "The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner.", "journal": "Cell", "date": "1997", "authors": "Nakamura N, Lowe M, Levine TP, Rabouille C, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9150144", "url": "https://glygen.org/publication/PubMed/9150144" } ] }, { "title": "Assembly and disassembly of a ternary complex of synaptobrevin, syntaxin, and SNAP-25 in the membrane of synaptic vesicles.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Otto H, Hanson PI, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9177194", "url": "https://glygen.org/publication/PubMed/9177194" } ] }, { "title": "Bidirectional transport by distinct populations of COPI-coated vesicles.", "journal": "Cell", "date": "1997", "authors": "Orci L, Stamnes M, Ravazzola M, Amherdt M, Perrelet A, Sollner TH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9244307", "url": "https://glygen.org/publication/PubMed/9244307" } ] }, { "title": "ER-to-Golgi transport visualized in living cells.", "journal": "Nature", "date": "1997", "authors": "Presley JF, Cole NB, Schroer TA, Hirschberg K, Zaal KJ, Lippincott-Schwartz J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9288971", "url": "https://glygen.org/publication/PubMed/9288971" } ] }, { "title": "Visualization of ER-to-Golgi transport in living cells reveals a sequential mode of action for COPII and COPI.", "journal": "Cell", "date": "1997", "authors": "Scales SJ, Pepperkok R, Kreis TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9323141", "url": "https://glygen.org/publication/PubMed/9323141" } ] }, { "title": "Na,K-ATPase transport from endoplasmic reticulum to Golgi requires the Golgi spectrin-ankyrin G119 skeleton in Madin Darby canine kidney cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Devarajan P, Stabach PR, De Matteis MA, Morrow JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9380700", "url": "https://glygen.org/publication/PubMed/9380700" } ] }, { "title": "The mammalian protein (rbet1) homologous to yeast Bet1p is primarily associated with the pre-Golgi intermediate compartment and is involved in vesicular transport from the endoplasmic reticulum to the Golgi apparatus.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Zhang T, Wong SH, Tang BL, Xu Y, Peter F, Subramaniam VN, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9382863", "url": "https://glygen.org/publication/PubMed/9382863" } ] }, { "title": "The KDEL receptor, ERD2, regulates intracellular traffic by recruiting a GTPase-activating protein for ARF1.", "journal": "The EMBO journal", "date": "1997", "authors": "Aoe T, Cukierman E, Lee A, Cassel D, Peters PJ, Hsu VW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9405360", "url": "https://glygen.org/publication/PubMed/9405360" } ] }, { "title": "A role for giantin in docking COPI vesicles to Golgi membranes.", "journal": "The Journal of cell biology", "date": "1998", "authors": "Sonnichsen B, Lowe M, Levine T, Jamsa E, Dirac-Svejstrup B, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9490716", "url": "https://glygen.org/publication/PubMed/9490716" } ] }, { "title": "Phosphorylation of the MAP kinase ERK2 promotes its homodimerization and nuclear translocation.", "journal": "Cell", "date": "1998", "authors": "Khokhlatchev AV, Canagarajah B, Wilsbacher J, Robinson M, Atkinson M, Goldsmith E, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "9604935", "url": "https://glygen.org/publication/PubMed/9604935" } ] }, { "title": "ADP ribosylation factor regulates spectrin binding to the Golgi complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Godi A, Santone I, Pertile P, Devarajan P, Stabach PR, Morrow JS, Di Tullio G, Polishchuk R, Petrucci TC, Luini A, De Matteis MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9671725", "url": "https://glygen.org/publication/PubMed/9671725" } ] }, { "title": "Mitogen- and stress-activated protein kinase-1 (MSK1) is directly activated by MAPK and SAPK2/p38, and may mediate activation of CREB.", "journal": "The EMBO journal", "date": "1998", "authors": "Deak M, Clifton AD, Lucocq LM, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165" } ], "reference": [ { "type": "PubMed", "id": "9687510", "url": "https://glygen.org/publication/PubMed/9687510" } ] }, { "title": "A single binding site for dilysine retrieval motifs and p23 within the gamma subunit of coatomer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Harter C, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9751720", "url": "https://glygen.org/publication/PubMed/9751720" } ] }, { "title": "Nuclear translocation of p42/p44 mitogen-activated protein kinase is required for growth factor-induced gene expression and cell cycle entry.", "journal": "The EMBO journal", "date": "1999", "authors": "Brunet A, Roux D, Lenormand P, Dowd S, Keyse S, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "9927426", "url": "https://glygen.org/publication/PubMed/9927426" } ] }, { "title": "Receptor-induced polymerization of coatomer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Reinhard C, Harter C, Bremser M, Brugger B, Sohn K, Helms JB, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9990005", "url": "https://glygen.org/publication/PubMed/9990005" } ] } ], "pathway": [ { "id": "hsa:6710", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6710", "resource": "KEGG Pathway" }, { "id": "R-HSA-375165", "name": "NCAM signaling for neurite out-growth", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165", "resource": "Reactome", "description": "NCAM signaling for neurite out-growth" }, { "id": "R-HSA-445095", "name": "Interaction between L1 and Ankyrins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095", "resource": "Reactome", "description": "Interaction between L1 and Ankyrins" }, { "id": "R-HSA-5673001", "name": "RAF/MAP kinase cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "resource": "Reactome", "description": "RAF/MAP kinase cascade" }, { "id": "R-HSA-6807878", "name": "COPI-mediated anterograde transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878", "resource": "Reactome", "description": "COPI-mediated anterograde transport" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AWM3-1", "protein_name": "Spectrin beta chain", "gene_name": "Sptb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTSATEFENVGNQPPYSRINARWDAPDDELDNDSSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRISDLYKDLRDGRMLIKLLEVLSGEMLPRPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPQVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFDVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTISVLNSRKFANSLSGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYQRELALRSELIRQEKLEQLARRFDRKAAMRETWLNENQRLVTQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVKALEDLAQELEKENYHDQKRISARKNNILRLWSYLQELLRSRRQRLEATLALQKLFQDMLHSIDWMDEIKAHILSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKTITAATLQFTEGKGYQPCDPQVIQDRVSHLEQCFSELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLKQIFQEAEDMVAQKQFGHPQIETRVKEVSAQWDHLKELAAFRKKDLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRALGKKHKEFLEELEESRGVMEHLENQAQGFPEEFRDSPDVTNRLQALRKLYQQVMAQAELRGHKLQEALDLYTVFGESDACELWMTEKGKWLDQMDIPNTLEDLEVVQHRFDILDQEMKTLMAQIDGVNLAANNLVESGHPRSGEVKQYQDRLNKRWQAFQAVVSEQREAVDSALRVNNYCVDCEETSKWIVDKTKVVESTKDLGQDLAGVIAIQRKLSGLERDVLAIRDRVSALERESQYLMESHPDQKEDIGQRQADVEKMWKGLQDALQGQELSLGEASKLQAFLQDLDDFKAWLSMAQKAVASEDMPESLPEAEQLLQQHAAIKEEIDAHKDDYHRVKASGEKVIEGQTDPDYQLLGQRLEGLDTDWDALWRMWESRGNTLTQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSLAAAEAGIRKFEDFLVSMENNRDKVLSPVDSGNMLVSEGNLYSNKIKEKVQLIEDRHMKNNEKAQEVTALLKDNLELQNFLQNCKELTLWINDKLLTSPDISYDEARNLHNKWMKHQAFMAELASHQGWLENIVAEGRQLMAEKPQFTDVVSERLEALHKLWDELQTTTKAKTEQLSAARSSDLRLQTHADLSKWISAMEDQLRSDDLGKDLTTVNRMLVKLKRVEEQVNLRKEELEELFAEAPPLGAEAGDTDMSIEKRFLDLLEPLGRRKKQLELSKAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHAPRVEDVLHRGQELVKAAEIDCQDIEERLGHLQSSWDTLREAAAGRLQRLREAHEAQQYYLDAGEAEAWISEQELYVFSDEPPKDEEGAIVMLKRHLRQQRTVEEYGRNIKQLAGRAQSLLSAGHPEGEQIIRLQGQVDKQYAGLKDMAEERRRKLENMYHLFQLKREADDLEQWITEKEMVASSQEMGQDFDHVTMLRDKFRDFARETGAIGQERVDNVNSIIERLIDAGHSEAATIAEWKDGLNDMWADLLELIDTRMQLLAASYDLHRYFYTGTEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKADAIQSKEQEVSAAWQALLDACAGRRAQLVDTADKFRFFSMVRDLLSWMESIIRQIETQERPRDVSSVELLLKYHQGIKAEINTRAKNFSTCLELGESLLQRQHQASDEIREKLQQVISRRQEMNDKWEARSDRLHMLLEVCQFSRDASVAEAWLIAQEPYLASRDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQTPDRPTEEPGPQEEEGETAGEAPQVHHAATERTSPGEERGPWPQDLQPPPLPGHHKDEQEKSVGDERPATEPLFKVLDTPLSEGDEPTTLPAQRDLGHTVQMEGYLGRKHDLEGPNKKASNRSWNNLYCVLRNSQLTFYKDAKNLALGVPYHGEEPLALRHAICEIAVNYKKKKHVFKLRLSNGSEWLFHGKDEEEMLLWLQGMSTAINESQSIRVKAQSLPLPSLAGPDASVGKKDKEKRFSFFPKKK", "length": 2329 }, "evidence": [ { "id": "45917117", "url": "http://www.informatics.jax.org/homology/45917117", "database": "MGI" }, { "id": "P11277", "url": "https://omabrowser.org/oma/group/P11277/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P15508-1", "protein_name": "Spectrin beta chain, erythrocytic", "gene_name": "Sptb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTSATEFENVGNQPPFSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRISDLYKDLRDGRMLIKLLEVLSGEMLPRPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGREQRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFDVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTISVLNSRKFANSLSGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYQRELALRSELIRQEFDRKAAMRETWLNENQRLVTQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVKALEDLAQELEKENYHDQKRIIARKDNILRLWSYLQELLRSRRQRLEATLALQKLFQDMLHSIDWMDEIKAHILSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLQFAEGKGYQPCDPQVIQDRVSHLEQCFSELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLKQIFQEADDMVAQKQFGHPQIETRVKEVSAQWDHLKELAAFRKKDLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRALGKKHKEFLEELEESRGVMEHLEHQAQGFPEEFRDSPDVTNRLQALRKLYQQVLTQAELRGHKLQEALDLYTVFGESDACELWMTEKGKWLDQMDIPNTLEDLEVVQHRFDILDQEMKTLMAQIDGVNLAANNLVESGHPRSGEVKQYQDRLNKRWQAFQAVVSEQREAVDSALRVNNYCVDCEETSKWIMDKTKVVESTKDLGQDLAGVIAIQRKLSGLERDVLAIRDRVSALERESQYLMESHPEQKEDIGQRQADVEKLWKGLQDALQGQELSLGEASKLQAFLQDLDDFKAWLSMAQKAVASEDMPESLPEAEQLLQQHAAIKEEIDAHRDDYHRVKASGEKVIEGQTDPDYQLLGQRLEGLDTDWDALRRMWESRGNTLTQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSLAAAEAGIRKFEDFLVSMENNRDKILSPVDSGNKLVAEGNLYSNKIMEKVQLIEDRHKKNNEKAQEATVLLKDNLELQNFLQNCKELTLWINDKLLTSPDVSYDEARNLHNKWMKHQAFMAELASHQGWLENIDAEGRQLMAEKPQFKDVVSERLEALHKLWEELQSTAKAKAEQLSAARSSDLRLQTHADLNKWIGAMEDQLRSDDLGKDLTTVNRMLAKLKRVEEQVNLRKEELEELFADAPSLGAEAGDTDMSIEKRFLDLLEPLGRRKKQLELSKAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHAPRVEDVLRRGQELVKAAEIDCQDIEERLGHLQSSWDTLREAAAGRLQRLRDAHEAQQYYLDAGEAEAWISEQELYVFSDEPPKDEEGAIVMLKRHLRQQRTVEEYGRNIKQLAGRAQSLLSAGHPEGEQIIRLQGQVDKQYAGLKDMAEERRRRLENMYHLFQLKREADDLEQWITEKEMVASSQEMGQDFDHVTMLRDKFRDFARETGAIGQERVDNVTIIERLIDAGHSEAATIAEWKDGLNDMWADLLELIDTRMQLLAASYDLHRYFYTGTEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKADAIQSKEQEVSAAWQALLDACAGRRAQLVDTADKFRFFSMVRDLLSWMESIIRQIETQERPRDVSSVELLLKYHQGIKAEINTRAKNFSTCLELGESLLQRQHQASDEIREKLQQVISRRQEMNDKWEARSDRLHMLLEVCQFSRDASVAEAWLIAQEPYLASRDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQTPERPTEEPGPQEEEGETAGEAPQVHHAATERTSPVSFMSRLSSSWESLLPEPAHPF", "length": 2128 }, "evidence": [ { "id": "45917117", "url": "http://www.informatics.jax.org/homology/45917117", "database": "MGI" } ], "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": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "spectrin-associated cytoskeleton", "id": "GO:0014731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014731", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "spectrin", "id": "GO:0008091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008091", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "modification of postsynaptic actin cytoskeleton", "id": "GO:0098885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098885", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "actin filament capping", "id": "GO:0051693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051693", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1520, "end_pos": 1522, "annotation": "n_glycosylation_sequon" }, { "start_pos": 194, "end_pos": 196, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1958, "end_pos": 1960, "annotation": "n_glycosylation_sequon" }, { "start_pos": 197, "end_pos": 199, "annotation": "n_glycosylation_sequon" }, { "start_pos": 34, "end_pos": 36, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "(Microbial infection) Probably cleaved by P.falciparum SERA6; the cleavage results in SPTB solubilization causing the disruption of the actin cytoskeleton and the rupture of the erythrocyte cell membrane releasing the merozoites.", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "29459732", "url": "https://glygen.org/publication/PubMed/29459732" } ] }, { "annotation": "The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-2110.", "evidence": [ { "database": "UniProtKB", "id": "P11277", "url": "https://www.uniprot.org/uniprot/P11277" }, { "database": "PubMed", "id": "15065869", "url": "https://glygen.org/publication/PubMed/15065869" } ] } ], "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": [], "o_linked_sites": [ 671, 767, 1297, 1652, 1928, 1936 ], "snv_sites": [ 14, 34, 74, 241, 395, 498, 668, 746, 910, 971, 1161, 1297, 1312, 1586, 1652, 1751, 2017 ], "glycation_sites": [], "phosphorylation_sites": [ 36, 96, 104, 1297, 2043, 2073, 2110, 2114, 2117, 2123, 2125, 2128 ], "sequon_annotation_sites": [ { "start_pos": 1520, "end_pos": 1522 }, { "start_pos": 194, "end_pos": 196 }, { "start_pos": 1958, "end_pos": 1960 }, { "start_pos": 197, "end_pos": 199 }, { "start_pos": 34, "end_pos": 36 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 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": "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": 12 }, { "field": "total_sites", "count": 12 } ], "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": 20 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 188 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }