{ "uniprot_canonical_ac": "O75131-1", "uniprot_ac": "O75131", "uniprot_id": "CPNE3_HUMAN", "mass": { "chemical_mass": 60131.0, "monoisotopic_mass": 60131.0 }, "refseq": { "ac": "NP_003900", "name": "copine-3", "summary": "Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, "gene_names": [ { "name": "CPNE3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75131", "id": "O75131" }, { "name": "CPN3; PRO1071", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900", "id": "NP_003900" }, { "name": "CPN3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75131", "id": "O75131" }, { "name": "CPNE3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900", "id": "NP_003900" }, { "name": "KIAA0636", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75131", "id": "O75131" } ], "protein_names": [ { "name": "Copine-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75131" }, { "name": "Copine III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75131" }, { "name": "copine III", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900", "id": "NP_003900" }, { "name": "copine-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900", "id": "NP_003900" } ], "function": [ { "annotation": "CPNE3 moderates the association between anxiety and working memory. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, { "database": "PubMed", "id": "33767297", "url": "https://glygen.org/publication/PubMed/33767297" } ] }, { "annotation": "Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" } ] }, { "annotation": "Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation (PubMed:20010870).", "evidence": [ { "database": "UniProtKB", "id": "O75131", "url": "https://www.uniprot.org/uniprot/O75131#function" }, { "database": "PubMed", "id": "20010870", "url": "https://glygen.org/publication/PubMed/20010870" } ] }, { "annotation": "Exosomal CPNE3 levels are associated with the tumor extent and may serve as a diagnostic biomarker in colorectal cancer patients.", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, { "database": "PubMed", "id": "30078189", "url": "https://glygen.org/publication/PubMed/30078189" } ] }, { "annotation": "Patients who have low CPNE3 expression in peripheral blood are more likely to suffer from AMI than those with stable CAD. Low expression of CPNE3 gene serves as an potential independent risk factor of AMI.", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, { "database": "PubMed", "id": "29297177", "url": "https://glygen.org/publication/PubMed/29297177" } ] }, { "annotation": "Susceptibility genes CPNE3, IL16 and CDH13 with moderate effects associated with susceptibility to prostate cancer. GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, { "database": "PubMed", "id": "18264096", "url": "https://glygen.org/publication/PubMed/18264096" } ] }, { "annotation": "Upregulation of CPNE3 suppresses invasion, migration and proliferation of glioblastoma cells through FAK pathway inactivation.", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, { "database": "PubMed", "id": "33725213", "url": "https://glygen.org/publication/PubMed/33725213" } ] }, { "annotation": "Upregulation of EMP1 significantly increases cancer cell migration that leads to tumor metastasis", "evidence": [ { "database": "RefSeq", "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900" }, { "database": "PubMed", "id": "29867202", "url": "https://glygen.org/publication/PubMed/29867202" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs768582756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768582756" }, { "id": "rs768582756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768582756" }, { "id": "rs768582756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768582756" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "8", "chr_pos": "86531197", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1405534696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405534696" }, { "id": "rs1405534696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405534696" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "8", "chr_pos": "86531222", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1285544281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1285544281" }, { "id": "rs1285544281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1285544281" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 195, "end_pos": 195, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "8", "chr_pos": "86540286", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368451778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368451778" }, { "id": "rs368451778", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368451778" }, { "id": "rs368451778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368451778" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 19, "end_pos": 19, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLL->NLS).", "chr_id": "8", "chr_pos": "86528601", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757206461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757206461" }, { "id": "rs757206461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757206461" }, { "id": "rs757206461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757206461" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 207, "end_pos": 207, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "8", "chr_pos": "86540320", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172623086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172623086" }, { "id": "rs1172623086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172623086" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 366, "end_pos": 366, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "8", "chr_pos": "86551211", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150407168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150407168" }, { "id": "rs150407168", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150407168" }, { "id": "rs150407168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150407168" }, { "id": "rs150407168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150407168#frequency_tab" }, { "id": "rs150407168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150407168" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 367, "end_pos": 367, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 out of 1 filters: 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751521587" }, { "id": "rs751521587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751521587" }, { "id": "rs751521587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751521587#frequency_tab" }, { "id": "rs751521587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751521587" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 499, "end_pos": 499, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "8", "chr_pos": "86558291", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149163982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149163982" }, { "id": "rs149163982", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149163982" }, { "id": "rs149163982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149163982" }, { "id": "rs149163982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149163982#frequency_tab" }, { "id": "rs149163982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149163982" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 55, "end_pos": 55, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCL->NCS).", "chr_id": "8", "chr_pos": "86528976", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "L55", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": 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"evidence": [ { "database": "BioXpress", "id": "O75131", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75131" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75131", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75131" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75131", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75131" } ], "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": 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"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": "O75131", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75131" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75131", "url": "https://www.uniprot.org/uniprot/O75131" } ], "common_name": "Human" } ], "gene": [ { "name": "CPNE3", "url": "https://www.uniprot.org/uniprot/O75131", "locus": { "chromosome": "8", "start_pos": 86561498, "end_pos": 86514435, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000085719", "url": "https://www.ensembl.org/id/ENSG00000085719" } ] } } ], "crossref": [ { "id": "ENSG00000085719", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000085719", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd01459", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01459", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04047", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04047", "database": 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"https://www.ebi.ac.uk/interpro/entry/IPR002035", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010734", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010734", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035892", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036465", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036465", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037768", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037768", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045052", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045052", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8895", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8895", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604207", "url": "http://www.omim.org/entry/604207", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75131", "url": "https://www.nextprot.org/entry/NX_O75131", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75131", "url": "https://oglcnac.org/atlas/detail/O75131", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75131", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75131", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EMAAQCV", "url": "https://omabrowser.org/oma/group/EMAAQCV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "672483at2759", "url": "http://www.orthodb.org/?query=672483at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10857", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10857", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10857:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10857:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00168", "url": "http://pfam.xfam.org/family/PF00168", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07002", "url": "http://pfam.xfam.org/family/PF07002", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75131", "url": "https://pharos.nih.gov/targets/O75131", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75131", "url": "http://purl.obolibrary.org/obo/PR_O75131", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1483206", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483206", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WUS8", "url": "https://www.uniprot.org/uniprot/A0A087WUS8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUS8-1", "url": "https://www.uniprot.org/uniprot/A0A087WUS8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXR6", "url": "https://www.uniprot.org/uniprot/A0A087WXR6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXR6-1", "url": "https://www.uniprot.org/uniprot/A0A087WXR6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYQ3", "url": "https://www.uniprot.org/uniprot/A0A087WYQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYQ3-1", "url": "https://www.uniprot.org/uniprot/A0A087WYQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMP5", "url": "https://www.uniprot.org/uniprot/A0A0G2JMP5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMP5-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JMP5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFT7", "url": "https://www.uniprot.org/uniprot/E5RFT7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFT7-1", "url": "https://www.uniprot.org/uniprot/E5RFT7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHZ0", "url": "https://www.uniprot.org/uniprot/E5RHZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHZ0-1", "url": "https://www.uniprot.org/uniprot/E5RHZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB26", "url": "https://www.uniprot.org/uniprot/H0YB26", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB26-1", "url": "https://www.uniprot.org/uniprot/H0YB26-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75131", "url": "https://www.uniprot.org/uniprot/O75131", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75131-1", "url": "https://www.uniprot.org/uniprot/O75131-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGVYDIDNKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEIKDNRVVLFEMEARKLDNKDLFGKSDPYLEFHKQTSDGNWLMVHRTEVVKNNLNPVWRPFKISLNSLCYGDMDKTIKVECYDYDNDGSHDLIGTFQTTMTKLKEASRSSPVEFECINEKKRQKKKSYKNSGVISVKQCEITVECTFLDYIMGGCQLNFTVGVDFTGSNGDPRSPDSLHYISPNGVNEYLTALWSVGLVIQDYDADKMFPAFGFGAQIPPQWQVSHEFPMNFNPSNPYCNGIQGIVEAYRSCLPQIKLYGPTNFSPIINHVARFAAAATQQQTASQYFVLLIITDGVITDLDETRQAIVNASRLPMSIIIVGVGGADFSAMEFLDGDGGSLRSPLGEVAIRDIVQFVPFRQFQNAPKEALAQCVLAEIPQQVVGYFNTYKLLPPKNPATKQQKQ", "length": 537, "header": "sp|O75131-1|CPNE3_HUMAN Isoform 1 of Copine-3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "isoforms": [ { "isoform_ac": "A0A087WUS8-1", "url": "", "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGVYDIDNKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEI", "length": 135, "header": "tr|A0A087WUS8-1|CPNE3_HUMAN Computationally mapped isoform of Copine-3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86532526, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620393.4", "url": "https://www.ensembl.org/id/ENST00000620393.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478894.1", "url": "https://www.ensembl.org/id/ENSP00000478894.1" } ] } }, { "isoform_ac": "A0A087WXR6-1", "url": "", "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGVYDIDNKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEIKDNR", "length": 139, "header": "tr|A0A087WXR6-1|A0A087WXR6_HUMAN Computationally mapped isoform of Copine 3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86532538, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621245.4", "url": "https://www.ensembl.org/id/ENST00000621245.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481234.1", "url": "https://www.ensembl.org/id/ENSP00000481234.1" } ] } }, { "isoform_ac": "A0A087WYQ3-1", "url": "", "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGVYDIDNKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEIKDNRVVLFEMEARKLDNKDLFGKSDPYLEFHKQTSDGNWLMVHRTEVVKNNLNPVWRPFKISLNSLCYGDMDKTIKVECYDYDNDGSHDLIGTFQTTMT", "length": 234, "header": "tr|A0A087WYQ3-1|CPNE3_HUMAN Computationally mapped isoform of Copine-3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86544808, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621783.4", "url": "https://www.ensembl.org/id/ENST00000621783.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482002.1", "url": "https://www.ensembl.org/id/ENSP00000482002.1" } ] } }, { "isoform_ac": "A0A0G2JMP5-1", "url": "", "sequence": { "sequence": "MAAQCVTK", "length": 8, "header": "tr|A0A0G2JMP5-1|CPNE3_HUMAN Computationally mapped isoform of Copine-3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=4 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86528569, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621526.4", "url": "https://www.ensembl.org/id/ENST00000621526.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479670.1", "url": "https://www.ensembl.org/id/ENSP00000479670.1" } ] } }, { "isoform_ac": "E5RFT7-1", "url": "", "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGV", "length": 79, "header": "tr|E5RFT7-1|CPNE3_HUMAN Computationally mapped isoform of Copine-3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86529049, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522240.1", "url": "https://www.ensembl.org/id/ENST00000522240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000427966.1", "url": "https://www.ensembl.org/id/ENSP00000427966.1" } ] } }, { "isoform_ac": "E5RHZ0-1", "url": "", "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGVYDIDNKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEIKDNRVVLFEMEARKLDNK", "length": 153, "header": "tr|E5RHZ0-1|E5RHZ0_HUMAN Computationally mapped isoform of Copine 3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86532580, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523469.5", "url": "https://www.ensembl.org/id/ENST00000523469.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429561.1", "url": "https://www.ensembl.org/id/ENSP00000429561.1" } ] } }, { "isoform_ac": "H0YB26-1", "url": "", "sequence": { "sequence": "XKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEIKDNRVVLFEMEARKLDNKVVKNNLNPVWRPFKISLNSLCYGDMDKTIKVECYDYDNDGSHDLIGTFQTTMTKLKEASRSSPVEFECINEKKRQKKKSYKNSGVISVKQCEITVECTFLDYIMGGCQLNFTVGVDFTGSNGDPRSPDSLHYISPNGVNEYLTALWSVGLVIQDYDADKMFPAFGFGAQIPPQWQVSHEFPMNFNPSNPYCN", "length": 262, "header": "tr|H0YB26-1|H0YB26_HUMAN Computationally mapped isoform of Copine 3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86551233, "end_pos": 86529063, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517391.5", "url": "https://www.ensembl.org/id/ENST00000517391.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428561.1", "url": "https://www.ensembl.org/id/ENSP00000428561.1" } ] } }, { "isoform_ac": "O75131-1", "url": "", "sequence": { "sequence": "MAAQCVTKVALNVSCANLLDKDIGSKSDPLCVLFLNTSGQQWYEVERTERIKNCLNPQFSKTFIIDYYFEVVQKLKFGVYDIDNKTIELSDDDFLGECECTLGQIVSSKKLTRPLVMKTGRPAGKGSITISAEEIKDNRVVLFEMEARKLDNKDLFGKSDPYLEFHKQTSDGNWLMVHRTEVVKNNLNPVWRPFKISLNSLCYGDMDKTIKVECYDYDNDGSHDLIGTFQTTMTKLKEASRSSPVEFECINEKKRQKKKSYKNSGVISVKQCEITVECTFLDYIMGGCQLNFTVGVDFTGSNGDPRSPDSLHYISPNGVNEYLTALWSVGLVIQDYDADKMFPAFGFGAQIPPQWQVSHEFPMNFNPSNPYCNGIQGIVEAYRSCLPQIKLYGPTNFSPIINHVARFAAAATQQQTASQYFVLLIITDGVITDLDETRQAIVNASRLPMSIIIVGVGGADFSAMEFLDGDGGSLRSPLGEVAIRDIVQFVPFRQFQNAPKEALAQCVLAEIPQQVVGYFNTYKLLPPKNPATKQQKQ", "length": 537, "header": "sp|O75131-1|CPNE3_HUMAN Isoform 1 of Copine-3 OS=Homo sapiens OX=9606 GN=CPNE3 PE=1 SV=1 CANONICAL=O75131-1" }, "locus": { "chromosome": "8", "start_pos": 86558407, "end_pos": 86528546, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517490.6", "url": "https://www.ensembl.org/id/ENST00000517490.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000477590.1", "url": "https://www.ensembl.org/id/ENSP00000477590.1" } ] } } ], "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": 119, "start_aa": "Thr", "end_pos": 119, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr119", "evidence": [ { "id": "O75131", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75131" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75131", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75131" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75131", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75131" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", 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expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Creutz CE, Tomsig JL, Snyder SL, Gautier MC, Skouri F, Beisson J, Cohen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483206", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483206" } ], "reference": [ { "type": "PubMed", "id": "9430674", "url": "https://glygen.org/publication/PubMed/9430674" } ] } ], 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