{ "uniprot_canonical_ac": "O60664-1", "uniprot_ac": "O60664", "uniprot_id": "PLIN3_HUMAN", "mass": { "chemical_mass": 47075.0, "monoisotopic_mass": 47075.0 }, "refseq": { "ac": "NP_001157661", "name": "perilipin-3 isoform 2", "summary": "Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" }, "gene_names": [ { "name": "PLIN3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60664", "id": "O60664" }, { "name": "M6PRBP1; PP17; TIP47", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661", "id": "NP_001157661" }, { "name": "M6PRBP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60664", "id": "O60664" }, { "name": "PLIN3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661", "id": "NP_001157661" }, { "name": "TIP47", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60664", "id": "O60664" } ], "protein_names": [ { "name": "Perilipin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60664" }, { "name": "47 kDa MPR-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60664" }, { "name": "47 kDa mannose 6-phosphate receptor-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60664" }, { "name": "Cargo selection protein TIP47", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60664" }, { "name": "Mannose-6-phosphate receptor-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60664" }, { "name": "PP17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60664" }, { "name": "Placental protein 17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60664" }, { "name": "perilipin-3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661", "id": "NP_001157661" }, { "name": "tail-interacting protein, 47 kD; testicular tissue protein Li 114; cargo selection protein TIP47; placental protein 17; 47 kDa MPR-binding protein; mannose-6-phosphate receptor-binding protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661", "id": "NP_001157661" } ], "function": [ { "annotation": "Associations of Perilipin 3 with Insulin Resistance in Arab Adults with Type 2 Diabetes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" }, { "database": "PubMed", "id": "34765049", "url": "https://glygen.org/publication/PubMed/34765049" } ] }, { "annotation": "Binding of perilipin 3 to membranes containing diacylglycerol is mediated by conserved residues within its PAT domain.", "evidence": [ { "database": "RefSeq", "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" }, { "database": "PubMed", "id": "37898398", "url": "https://glygen.org/publication/PubMed/37898398" } ] }, { "annotation": "Lipophagy-Related Protein Perilipin-3 and Resistance of Prostate Cancer to Radiation Therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" }, { "database": "PubMed", "id": "35121129", "url": "https://glygen.org/publication/PubMed/35121129" } ] }, { "annotation": "Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" } ] }, { "annotation": "Silencing of Perilipin 3 Inhibits Lung Adenocarcinoma Cell Immune Resistance by Regulating the Transcription of PD-L1 Through c-Myc.", "evidence": [ { "database": "RefSeq", "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" }, { "database": "PubMed", "id": "37578465", "url": "https://glygen.org/publication/PubMed/37578465" } ] }, { "annotation": "Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets (PubMed:34077757). Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network (PubMed:9590177).", "evidence": [ { "database": "UniProtKB", "id": "O60664", "url": "https://www.uniprot.org/uniprot/O60664#function" }, { "database": "PubMed", "id": "34077757", "url": "https://glygen.org/publication/PubMed/34077757" }, { "database": "PubMed", "id": "9590177", "url": "https://glygen.org/publication/PubMed/9590177" } ] }, { "annotation": "Structural insights into perilipin 3 membrane association in response to diacylglycerol accumulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661" }, { "database": "PubMed", "id": "37268630", "url": "https://glygen.org/publication/PubMed/37268630" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs747870405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747870405" }, { "id": "rs747870405", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747870405" }, { "id": "rs747870405", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747870405" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 11, "end_pos": 11, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "19", "chr_pos": "4861364", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S11", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1428465656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1428465656" }, { "id": "rs1428465656", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1428465656#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 11, "end_pos": 11, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "19", "chr_pos": "4861363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S11", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780847626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780847626" }, { "id": "rs780847626", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780847626" }, { "id": "rs780847626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780847626" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 11, "end_pos": 11, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "19", "chr_pos": "4861362", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S11", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60664", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60664" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 140, "end_pos": 140, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KDT->NDT).", "chr_id": "19", "chr_pos": "4852230", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K140", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1250617293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250617293" }, { "id": "rs1250617293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250617293" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 152, "end_pos": 152, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "19", "chr_pos": "4852196", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761431232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761431232" }, { "id": "rs761431232", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761431232" }, { "id": "rs761431232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761431232#frequency_tab" }, { "id": "rs761431232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761431232" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 163, "end_pos": 163, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "19", "chr_pos": "4852163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369269065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369269065" }, { "id": "rs369269065", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369269065" }, { "id": "rs369269065", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369269065" }, { "id": "rs369269065", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369269065" }, { "id": "rs369269065", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369269065#frequency_tab" }, { "id": "rs369269065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369269065" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "4852078", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766600024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766600024" }, { "id": "rs766600024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766600024" }, { "id": "rs766600024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766600024#frequency_tab" }, { "id": "rs766600024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766600024" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 273, "end_pos": 273, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "19", "chr_pos": "4847707", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777147524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777147524" }, { "id": "rs777147524", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777147524" }, { "id": "rs777147524", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777147524#frequency_tab" }, { "id": "rs777147524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777147524" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 277, "end_pos": 277, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "19", "chr_pos": "4847696", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768864109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768864109" }, { "id": "rs768864109", "database": "ExAC", 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"end_pos": 281, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "19", "chr_pos": "4844787", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60664", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60664" } ], "glycoeffect": [], "start_pos": 331, "end_pos": 331, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60664", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60664" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60664", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60664" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60664" } ], "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 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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": "O60664", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60664" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60664", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60664" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60664", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60664" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60664", "url": "https://www.uniprot.org/uniprot/O60664" } ], "common_name": "Human" } ], "gene": [ { "name": "PLIN3", "url": "https://www.uniprot.org/uniprot/O60664", "locus": { "chromosome": "19", "start_pos": 4838341, "end_pos": 4867694, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105355", "url": "https://www.ensembl.org/id/ENSG00000105355" } ] } } ], "crossref": [ { "id": "ENSG00000105355", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105355", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60664", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60664", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL4523145", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4523145", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PLIN3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLIN3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10226", "url": "https://www.ncbi.nlm.nih.gov/gene/10226", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "16893", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16893", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "K7ERZ3", "url": "https://www.ebi.ac.uk/intact/interactors/id:K7ERZ3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O60664", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60664*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004279", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004279", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10226", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10226", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602702", "url": "http://www.omim.org/entry/602702", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60664", "url": "https://www.nextprot.org/entry/NX_O60664", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60664", "url": "https://oglcnac.org/atlas/detail/O60664", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60664", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60664", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "STVMSTR", "url": "https://omabrowser.org/oma/group/STVMSTR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3026676at2759", "url": "http://www.orthodb.org/?query=3026676at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14024", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14024", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14024:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14024:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03036", "url": "http://pfam.xfam.org/family/PF03036", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60664", "url": "https://pharos.nih.gov/targets/O60664", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60664", "url": "http://purl.obolibrary.org/obo/PR_O60664", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9613354", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613354", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9613829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9615710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9706019", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9706019", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001157661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157661", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "K7EJD0", "url": "https://www.uniprot.org/uniprot/K7EJD0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJD0-1", "url": "https://www.uniprot.org/uniprot/K7EJD0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL96", "url": "https://www.uniprot.org/uniprot/K7EL96", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL96-1", "url": "https://www.uniprot.org/uniprot/K7EL96-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER39", "url": "https://www.uniprot.org/uniprot/K7ER39", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER39-1", "url": "https://www.uniprot.org/uniprot/K7ER39-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERZ3", "url": "https://www.uniprot.org/uniprot/K7ERZ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERZ3-1", "url": "https://www.uniprot.org/uniprot/K7ERZ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60664", "url": "https://www.uniprot.org/uniprot/O60664", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60664-1", "url": "https://www.uniprot.org/uniprot/O60664-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60664-2", "url": "https://www.uniprot.org/uniprot/O60664-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60664-3", "url": "https://www.uniprot.org/uniprot/O60664-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60664-4", "url": "https://www.uniprot.org/uniprot/O60664-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAVSGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQLSEAVDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVASVQQQRQEQSYFVRLGSLSERLRQHAYEHSLGKLRATKQRAQEALLQLSQVLSLMETVKQGVDQKLVEGQEKLHQMWLSWNQKQLQGPEKEPPKPEQVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSSIHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK", "length": 434, "header": "sp|O60664-1|PLIN3_HUMAN Isoform 1 of Perilipin-3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=3 CANONICAL=O60664-1" }, "isoforms": [ { "isoform_ac": "K7EJD0-1", "url": "", "sequence": { "sequence": "MSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLI", "length": 35, "header": "tr|K7EJD0-1|K7EJD0_HUMAN Computationally mapped isoform of Perilipin 3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=1 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4861394, "end_pos": 4859986, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587462.1", "url": "https://www.ensembl.org/id/ENST00000587462.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465117.1", "url": "https://www.ensembl.org/id/ENSP00000465117.1" } ] } }, { "isoform_ac": "K7EL96-1", "url": "", "sequence": { "sequence": "MPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAVSGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQLSEAVDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNH", "length": 172, "header": "tr|K7EL96-1|K7EL96_HUMAN Computationally mapped isoform of Perilipin 3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=8 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4859997, "end_pos": 4852041, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589034.5", "url": "https://www.ensembl.org/id/ENST00000589034.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465975.1", "url": "https://www.ensembl.org/id/ENSP00000465975.1" } ] } }, { "isoform_ac": "K7ER39-1", "url": "", "sequence": { "sequence": "MAGSGLELPFWSQRQASAAETMSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAVSGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQL", "length": 168, "header": "tr|K7ER39-1|PLIN3_HUMAN Computationally mapped isoform of Perilipin-3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=1 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4866925, "end_pos": 4852209, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589494.1", "url": "https://www.ensembl.org/id/ENST00000589494.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468096.1", "url": "https://www.ensembl.org/id/ENSP00000468096.1" } ] } }, { "isoform_ac": "K7ERZ3-1", "url": "", "sequence": { "sequence": "XKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQLSEAVDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVASVQQQRQEQSYFMETVKQGVDQKLVEGQEKLHQMWLSWNQKQLQGPEKEPPKPEQVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSSIHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK", "length": 292, "header": "tr|K7ERZ3-1|K7ERZ3_HUMAN Computationally mapped isoform of Perilipin 3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=1 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4859636, "end_pos": 4839194, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589163.5", "url": "https://www.ensembl.org/id/ENST00000589163.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468476.1", "url": "https://www.ensembl.org/id/ENSP00000468476.1" } ] } }, { "isoform_ac": "O60664-1", "url": "", "sequence": { "sequence": "MSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAVSGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQLSEAVDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVASVQQQRQEQSYFVRLGSLSERLRQHAYEHSLGKLRATKQRAQEALLQLSQVLSLMETVKQGVDQKLVEGQEKLHQMWLSWNQKQLQGPEKEPPKPEQVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSSIHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK", "length": 434, "header": "sp|O60664-1|PLIN3_HUMAN Isoform 1 of Perilipin-3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=3 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4861394, "end_pos": 4839195, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000221957.9", "url": "https://www.ensembl.org/id/ENST00000221957.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000221957.3", "url": "https://www.ensembl.org/id/ENSP00000221957.3" } ] } }, { "isoform_ac": "O60664-2", "url": "", "sequence": { "sequence": "MVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVASVQQQRQEQSYFVRLGSLSERLRQHAYEHSLGKLRATKQRAQEALLQLSQVLSLMETVKQGVDQKLVEGQEKLHQMWLSWNQKQLQGPEKEPPKPEQVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSSIHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK", "length": 251, "header": "sp|O60664-2|PLIN3_HUMAN Isoform 2 of Perilipin-3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=3 CANONICAL=O60664-1" }, "locus": {} }, { "isoform_ac": "O60664-3", "url": "", "sequence": { "sequence": "MSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAVSGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQLSEAVDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVASVQQQRQEQSYFVRLGSLSERLRQHAYEHSLGKLRATKQRAQEALLQLSQVLSLMETVKQGVDQKLVEGQEKLHQMWLSWNQKQLQGPEKEPPKPEVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSSIHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK", "length": 433, "header": "sp|O60664-3|PLIN3_HUMAN Isoform 3 of Perilipin-3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=3 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4861394, "end_pos": 4839195, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585479.5", "url": "https://www.ensembl.org/id/ENST00000585479.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465596.1", "url": "https://www.ensembl.org/id/ENSP00000465596.1" } ] } }, { "isoform_ac": "O60664-4", "url": "", "sequence": { "sequence": "MSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAVSGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVSGAQEMVSSAKDTVATQLSEAVDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVASVQQQRQEQSYFVRLGSLSERLRQHAYEHSLGKLRATKQRAQEALLQLSQVLSLMETVKQGVDQKLVEGQEKLHQMWLSWNQKQLQGPEKEPPKPEQVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSSIHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK", "length": 422, "header": "sp|O60664-4|PLIN3_HUMAN Isoform 4 of Perilipin-3 OS=Homo sapiens OX=9606 GN=PLIN3 PE=1 SV=3 CANONICAL=O60664-1" }, "locus": { "chromosome": "19", "start_pos": 4861394, "end_pos": 4839195, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592528.5", "url": "https://www.ensembl.org/id/ENST00000592528.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467803.1", "url": "https://www.ensembl.org/id/ENSP00000467803.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 11, "start_aa": "Ser", "end_pos": 11, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser11", "evidence": [ { "id": "O60664", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60664" }, { "id": "23301498", "database": "PubMed", "url": 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