{ "uniprot_canonical_ac": "O75140-10", "uniprot_ac": "O75140", "uniprot_id": "DEPD5_HUMAN", "mass": { "chemical_mass": 181264.0, "monoisotopic_mass": 181264.0 }, "refseq": { "ac": "NP_001007189", "name": "GATOR1 complex protein DEPDC5 isoform 2", "summary": "This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" }, "gene_names": [ { "name": "DEPDC5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75140", "id": "O75140" }, { "name": "DEE111; DEP.5; FFEVF; FFEVF1; FPEVF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189", "id": "NP_001007189" }, { "name": "DEPDC5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189", "id": "NP_001007189" }, { "name": "KIAA0645", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75140", "id": "O75140" } ], "protein_names": [ { "name": "GATOR1 complex protein DEPDC5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75140" }, { "name": "DEP domain-containing protein 5; GATOR complex protein DEPDC5; GATOR1 complex protein DEPDC5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189", "id": "NP_001007189" }, { "name": "DEP domain-containing protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75140" }, { "name": "GATOR1 complex protein DEPDC5 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189", "id": "NP_001007189" } ], "function": [ { "annotation": "As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:25457612, PubMed:29769719, PubMed:31548394, PubMed:29590090, PubMed:35338845). In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling (PubMed:23723238, PubMed:25457612, PubMed:29769719, PubMed:29590090, PubMed:35338845). In the presence of abundant amino acids, the GATOR1 complex is negatively regulated by GATOR2, the other GATOR subcomplex, in this amino acid-sensing branch of the TORC1 pathway (PubMed:23723238, PubMed:25457612, PubMed:29769719). Within the GATOR1 complex, DEPDC5 mediates direct interaction with the nucleotide-binding pocket of small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD) and coordinates their nucleotide loading states by promoting RagA/RRAGA or RagB/RRAGB into their GDP-binding state and RagC/RRAGC or RagD/RRAGD into their GTP-binding state (PubMed:29590090, PubMed:35338845). However, it does not execute the GAP activity, which is mediated by NPRL2 (PubMed:29590090).", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140#function" }, { "database": "PubMed", "id": "25457612", "url": "https://glygen.org/publication/PubMed/25457612" }, { "database": "PubMed", "id": "23723238", "url": "https://glygen.org/publication/PubMed/23723238" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" }, { "database": "PubMed", "id": "31548394", "url": "https://glygen.org/publication/PubMed/31548394" }, { "database": "PubMed", "id": "29590090", "url": "https://glygen.org/publication/PubMed/29590090" }, { "database": "PubMed", "id": "35338845", "url": "https://glygen.org/publication/PubMed/35338845" } ] }, { "annotation": "Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.", "evidence": [ { "database": "RefSeq", "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" }, { "database": "PubMed", "id": "37003255", "url": "https://glygen.org/publication/PubMed/37003255" } ] }, { "annotation": "Mutations in DEPDC5 cause familial focal epilepsy with variable foci.", "evidence": [ { "database": "RefSeq", "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" }, { "database": "PubMed", "id": "23542701", "url": "https://glygen.org/publication/PubMed/23542701" }, { "database": "PubMed", "id": "23542697", "url": "https://glygen.org/publication/PubMed/23542697" } ] }, { "annotation": "Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" }, { "database": "PubMed", "id": "37984419", "url": "https://glygen.org/publication/PubMed/37984419" } ] }, { "annotation": "Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" }, { "database": "PubMed", "id": "37259768", "url": "https://glygen.org/publication/PubMed/37259768" } ] }, { "annotation": "This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" } ] }, { "annotation": "Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189" }, { "database": "PubMed", "id": "21725309", "url": "https://glygen.org/publication/PubMed/21725309" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs375884815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375884815" }, { "id": "rs375884815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375884815" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1073, "end_pos": 1073, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "22", "chr_pos": "31857507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1073", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs865860087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865860087" }, { "id": "rs865860087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs865860087#frequency_tab" }, { "id": "rs865860087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs865860087" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1172, "end_pos": 1172, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "22", "chr_pos": "31873284", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775071751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775071751" }, { "id": "rs775071751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775071751" }, { "id": "rs775071751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775071751" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1331, "end_pos": 1331, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "22", "chr_pos": "31879711", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1569253932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569253932" }, { "id": "rs1569253932", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1569253932" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1495, "end_pos": 1495, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "22", "chr_pos": "31906030", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs912889864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912889864" }, { "id": "rs912889864", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs912889864" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1549, "end_pos": 1549, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWA->NWS).", "chr_id": "22", "chr_pos": "31906330", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1407536792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407536792" }, { "id": "rs1407536792", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1407536792#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1553, "end_pos": 1553, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTM->NTT).", "chr_id": "22", "chr_pos": "31906343", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761256495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761256495" }, { "id": "rs761256495", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761256495" }, { "id": "rs761256495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761256495" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 240, "end_pos": 240, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "22", "chr_pos": "31792768", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2087011420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087011420" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 325, "end_pos": 325, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "22", "chr_pos": "31802731", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200209747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209747" }, { "id": "rs200209747", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209747" }, { "id": "rs200209747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200209747#frequency_tab" }, { "id": "rs200209747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200209747" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 489, "end_pos": 489, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "22", "chr_pos": "31815012", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424564303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424564303" }, { "id": "rs1424564303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424564303" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 513, "end_pos": 513, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "22", "chr_pos": "31815084", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75140", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75140" }, { "id": "rs1160535755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160535755" }, { "id": "rs1160535755", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160535755" }, { "id": "rs1160535755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160535755#frequency_tab" }, { "id": "rs1160535755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160535755" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 523, "end_pos": 523, "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 (DSS->NSS).", "chr_id": "22", "chr_pos": "31815113", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D523", "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": 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"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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs768737581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768737581" }, { "id": "rs768737581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768737581" }, { "id": "rs768737581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768737581" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], 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"minor_allelic_frequency": "", "site_lbl": "H887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75140", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75140" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 94, "end_pos": 94, "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 (DVT->NVT).", "chr_id": "22", "chr_pos": "31766585", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D94", "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", 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effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1088 and R-1574.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1088, "end_pos": 1088, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1065 and R-1574.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1188, "end_pos": 1188, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1189, "end_pos": 1189, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1195, "end_pos": 1195, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1201, "end_pos": 1201, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1203, "end_pos": 1203, "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1207, "end_pos": 1207, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1223, "end_pos": 1223, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1241, "end_pos": 1241, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1244, "end_pos": 1244, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1250, "end_pos": 1250, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1253, "end_pos": 1253, "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1256, "end_pos": 1256, "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on interaction with KLHL22.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 1530, "end_pos": 1530, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished phosphorylation by PIM1; when associated with A-1002.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "31548394", "url": "https://glygen.org/publication/PubMed/31548394" } ] }, { "start_pos": 1574, "end_pos": 1574, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on ubiquitination. Loss of ubiquitination; when associated with R-447, R-710, R-1065 and R-1088.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 185, "end_pos": 189, "sequence_org": "DIYGD", "sequence_mut": "GSGSG", "comment": "In mutant AB; abolished interaction with NPRL2 and NPRL3; when associated with 371-G--G-375.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29590090", "url": "https://glygen.org/publication/PubMed/29590090" } ] }, { "start_pos": 371, "end_pos": 375, "sequence_org": "EQPLH", "sequence_mut": "GSGSG", "comment": "In mutant AB; abolished interaction with NPRL2 and NPRL3; when associated with 185-G--G-189.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29590090", "url": "https://glygen.org/publication/PubMed/29590090" } ] }, { "start_pos": 447, "end_pos": 447, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-710, R-1065, R-1088 and R-1574.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 710, "end_pos": 710, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-1065, R-1088 and R-1574.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "start_pos": 775, "end_pos": 775, "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly decreased interaction with RagA/RRAGA.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29590090", "url": "https://glygen.org/publication/PubMed/29590090" }, { "database": "PubMed", "id": "35338845", "url": "https://glygen.org/publication/PubMed/35338845" } ] }, { "start_pos": 775, "end_pos": 779, "sequence_org": "YDLLP", "sequence_mut": "GSGSG", "comment": "In mutant P; strongly decreased interaction with RagA/RRAGA.", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "29590090", "url": "https://glygen.org/publication/PubMed/29590090" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "57.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.46", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75140" } ], "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 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"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", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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": "O75140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75140" } ], "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", 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"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": "" 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75140" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75140" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75140" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75140" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://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": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" } ], "common_name": "Human" } ], "gene": [ { "name": "DEPDC5", "url": "https://www.uniprot.org/uniprot/O75140", "locus": { "chromosome": "22", "start_pos": 31908033, "end_pos": 31753867, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000100150", "url": "https://www.ensembl.org/id/ENSG00000100150" } ] } } ], "crossref": [ { "id": "ENSG00000100150", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100150", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75140", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75140", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd04449", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04449", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "DEPDC5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9681", "url": "https://www.ncbi.nlm.nih.gov/gene/9681", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18423", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18423", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75140", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75140*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000591", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000591", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027244", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027244", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045838", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045838", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048255", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048255", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9681", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9681", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604364", "url": "http://www.omim.org/entry/604364", "database": "MIM", "categories": [ "Other" ] }, { "id": "614191", "url": "http://www.omim.org/entry/614191", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75140", "url": "https://www.nextprot.org/entry/NX_O75140", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75140", "url": "https://oglcnac.org/atlas/detail/O75140", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75140", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75140", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "REMWHFE", "url": "https://omabrowser.org/oma/group/REMWHFE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "946033at2759", "url": "http://www.orthodb.org/?query=946033at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13179", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13179", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13179:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13179:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6CES", "url": "https://www.rcsb.org/structure/6CES", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CET", "url": "https://www.rcsb.org/structure/6CET", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T3A", "url": "https://www.rcsb.org/structure/7T3A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T3B", "url": "https://www.rcsb.org/structure/7T3B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T3C", "url": "https://www.rcsb.org/structure/7T3C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FW5", "url": "https://www.rcsb.org/structure/8FW5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00610", "url": "http://pfam.xfam.org/family/PF00610", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12257", "url": "http://pfam.xfam.org/family/PF12257", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19418", "url": "http://pfam.xfam.org/family/PF19418", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75140", "url": "https://pharos.nih.gov/targets/O75140", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75140", "url": "http://purl.obolibrary.org/obo/PR_O75140", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001007189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007189", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-1", "url": "https://www.uniprot.org/uniprot/O75140-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-10", "url": "https://www.uniprot.org/uniprot/O75140-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-2", "url": "https://www.uniprot.org/uniprot/O75140-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-4", "url": "https://www.uniprot.org/uniprot/O75140-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-5", "url": "https://www.uniprot.org/uniprot/O75140-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-6", "url": "https://www.uniprot.org/uniprot/O75140-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-8", "url": "https://www.uniprot.org/uniprot/O75140-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75140-9", "url": "https://www.uniprot.org/uniprot/O75140-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP", "length": 1603, "header": "sp|O75140-10|DEPD5_HUMAN Isoform 10 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "isoforms": [ { "isoform_ac": "O75140-1", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPMPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP", "length": 1572, "header": "sp|O75140-1|DEPD5_HUMAN Isoform 1 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31906494, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400248.7", "url": "https://www.ensembl.org/id/ENST00000400248.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000383107.1", "url": "https://www.ensembl.org/id/ENSP00000383107.1" } ] } }, { "isoform_ac": "O75140-10", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP", "length": 1603, "header": "sp|O75140-10|DEPD5_HUMAN Isoform 10 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31906494, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382112.8", "url": "https://www.ensembl.org/id/ENST00000382112.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000371546.4", "url": "https://www.ensembl.org/id/ENSP00000371546.4" } ] } }, { "isoform_ac": "O75140-2", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTREHLG", "length": 559, "header": "sp|O75140-2|DEPD5_HUMAN Isoform 2 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31815426, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400242.8", "url": "https://www.ensembl.org/id/ENST00000400242.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000383101.3", "url": "https://www.ensembl.org/id/ENSP00000383101.3" } ] } }, { "isoform_ac": "O75140-4", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP", "length": 1581, "header": "sp|O75140-4|DEPD5_HUMAN Isoform 4 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31906494, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644331.1", "url": "https://www.ensembl.org/id/ENST00000644331.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494406.1", "url": "https://www.ensembl.org/id/ENSP00000494406.1" } ] } }, { "isoform_ac": "O75140-5", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSLGLYKINILPLLLTSLLRTSLSISTLQEQCFCSCPTPSASSQGSSGGGGTPPAPPTRTCSARSGSATTGPTTPCSPKHGAPAPQGMKSLLIGC", "length": 1552, "header": "sp|O75140-5|DEPD5_HUMAN Isoform 5 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31906402, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382111.6", "url": "https://www.ensembl.org/id/ENST00000382111.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000371545.2", "url": "https://www.ensembl.org/id/ENSP00000371545.2" } ] } }, { "isoform_ac": "O75140-6", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDVMQWPCSSPPPPGTQQEWTTSPASSASGLRWPLWQKSSCTLRFLPFSCPGCLTGQPPMQVGTAPLAEVLEDGARRQHF", "length": 1229, "header": "sp|O75140-6|DEPD5_HUMAN Isoform 6 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": {} }, { "isoform_ac": "O75140-8", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP", "length": 1503, "header": "sp|O75140-8|DEPD5_HUMAN Isoform 8 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31906494, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535622.6", "url": "https://www.ensembl.org/id/ENST00000535622.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000440210.1", "url": "https://www.ensembl.org/id/ENSP00000440210.1" } ] } }, { "isoform_ac": "O75140-9", "url": "", "sequence": { "sequence": "MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPMPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP", "length": 1594, "header": "sp|O75140-9|DEPD5_HUMAN Isoform 9 of GATOR1 complex protein DEPDC5 OS=Homo sapiens OX=9606 GN=DEPDC5 PE=1 SV=2 CANONICAL=O75140-10" }, "locus": { "chromosome": "22", "start_pos": 31906494, "end_pos": 31754922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645711.1", "url": "https://www.ensembl.org/id/ENST00000645711.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493489.1", "url": "https://www.ensembl.org/id/ENSP00000493489.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 513, "start_aa": "Thr", "end_pos": 513, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr513", "evidence": [ { "id": "O75140", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75140" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "O75140", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75140" } ] } ], "phosphorylation": [ { "start_pos": 1002, "end_pos": 1002, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PIM1", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" }, { "database": "PubMed", "id": "31548394", "url": "https://glygen.org/publication/PubMed/31548394" } ], "site_lbl": "Ser1002" }, { "start_pos": 1530, "end_pos": 1530, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKB/AKT1 and PIM1", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" }, { "database": "PubMed", "id": "31548394", "url": "https://glygen.org/publication/PubMed/31548394" } ], "site_lbl": "Ser1530" }, { "start_pos": 445, "end_pos": 445, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75140", "url": "http://phospho.elm.eu.org/byAccession/O75140.html" }, { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser445" }, { "start_pos": 505, "end_pos": 505, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" } ], "site_lbl": "Ser505" }, { "start_pos": 579, "end_pos": 579, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75140", "url": "http://phospho.elm.eu.org/byAccession/O75140.html" }, { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser579" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Complex chromosome 22 rearrangements in astrocytic tumors identified using microsatellite and chromosome 22 tile path array analysis.", "journal": "Genes Chromosomes Cancer", "date": "2005", "authors": "Seng TJ, Ichimura K, Liu L, Tingby O, Pearson DM, Collins VP", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" } ], "reference": [ { "type": "PubMed", "id": "15770670", "url": "https://glygen.org/publication/PubMed/15770670" } ] }, { "title": "Rheb binds and regulates the mTOR kinase.", "journal": "Current biology : CB", "date": "2005", "authors": "Long X, Lin Y, Ortiz-Vega S, Yonezawa K, Avruch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288" } ], "reference": [ { "type": "PubMed", "id": "15854902", "url": "https://glygen.org/publication/PubMed/15854902" } ] }, { "title": "Rheb binding to mammalian target of rapamycin (mTOR) is regulated by amino acid sufficiency.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Long X, Ortiz-Vega S, Lin Y, Avruch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288" } ], "reference": [ { "type": "PubMed", "id": "15878852", "url": "https://glygen.org/publication/PubMed/15878852" } ] }, { "title": "Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1.", "journal": "FEBS letters", "date": "2005", "authors": "Tee AR, Blenis J, Proud CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288" } ], "reference": [ { "type": "PubMed", "id": "16098514", "url": "https://glygen.org/publication/PubMed/16098514" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" } ], "reference": [ { "type": "PubMed", "id": 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"authors": "Shen K, Choe A, Sabatini DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288" } ], "reference": [ { "type": "PubMed", "id": "29056322", "url": "https://glygen.org/publication/PubMed/29056322" } ] }, { "title": "SAMTOR is an S-adenosylmethionine sensor for the mTORC1 pathway.", "journal": "Science (New York, N.Y.)", "date": "2017", "authors": "Gu X, Orozco JM, Saxton RA, Condon KJ, Liu GY, Krawczyk PA, Scaria SM, Harper JW, Gygi SP, Sabatini DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288" } ], "reference": [ { "type": "PubMed", "id": "29123071", "url": "https://glygen.org/publication/PubMed/29123071" } ] }, { "title": "Mechanisms of mTORC1 activation by RHEB and inhibition by PRAS40.", "journal": "Nature", "date": "2017", "authors": "Yang H, Jiang X, Li B, Yang HJ, Miller M, Yang A, Dhar A, Pavletich NP", 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"https://www.uniprot.org/uniprot/O75140" } ], "reference": [ { "type": "PubMed", "id": "29769719", "url": "https://glygen.org/publication/PubMed/29769719" } ] }, { "title": "A nutrient-induced affinity switch controls mTORC1 activation by its Rag GTPase-Ragulator lysosomal scaffold.", "journal": "Nature cell biology", "date": "2018", "authors": "Lawrence RE, Cho KF, Rappold R, Thrun A, Tofaute M, Kim DJ, Moldavski O, Hurley JH, Zoncu R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9639288" } ], "reference": [ { "type": "PubMed", "id": "30061680", "url": "https://glygen.org/publication/PubMed/30061680" } ] }, { "title": "Ragulator and SLC38A9 activate the Rag GTPases through noncanonical GEF mechanisms.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Shen K, Sabatini DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9639288", 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Marina, Kraft Andrew S, Okumura Koichi", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" }, { "database": "iPTMnet", "id": "O75140", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75140" } ], "reference": [ { "type": "PubMed", "id": "31548394", "url": "https://glygen.org/publication/PubMed/31548394" } ] }, { "title": "Cryo-EM structures of the human GATOR1-Rag-Ragulator complex reveal a spatial-constraint regulated GAP mechanism.", "journal": "Molecular cell", "date": "2022-05-19", "authors": "Egri Shawn B, Ouch Christna, Chou Hui-Ting, Yu Zhiheng, Song Kangkang, Xu Chen, Shen Kuang", "evidence": [ { "database": "UniProtKB", "id": "O75140", "url": "https://www.uniprot.org/uniprot/O75140" } ], "reference": [ { "type": "PubMed", "id": "35338845", "url": "https://glygen.org/publication/PubMed/35338845" } ] }, { "title": "Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.", "journal": 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