{ "uniprot_canonical_ac": "A5PLL7-1", "uniprot_ac": "A5PLL7", "uniprot_id": "PDES1_HUMAN", "mass": { "chemical_mass": 31135.0, "monoisotopic_mass": 31135.0 }, "refseq": { "ac": "NP_001155977", "name": "plasmanylethanolamine desaturase isoform 2", "summary": "Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" }, "gene_names": [ { "name": "PEDS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5PLL7", "id": "A5PLL7" }, { "name": "CarF; KUA; TMEM189", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977", "id": "NP_001155977" }, { "name": "KUA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7", "id": "A5PLL7" }, { "name": "PDES", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7", "id": "A5PLL7" }, { "name": "PEDS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977", "id": "NP_001155977" }, { "name": "TMEM189", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7", "id": "A5PLL7" }, { "name": "hCG_2044780", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7", "id": "A5PLL7" } ], "protein_names": [ { "name": "Plasmanylethanolamine desaturase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5PLL7#names_and_taxonomy", "id": "A5PLL7" }, { "name": "1.14.19.77", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7#names_and_taxonomy", "id": "A5PLL7" }, { "name": "Plasmanylethanolamine desaturase 1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7#names_and_taxonomy", "id": "A5PLL7" }, { "name": "Transmembrane protein 189", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLL7#names_and_taxonomy", "id": "A5PLL7" }, { "name": "plasmanylethanolamine desaturase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977", "id": "NP_001155977" }, { "name": "transmembrane protein 189", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977", "id": "NP_001155977" } ], "function": [ { "annotation": "Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" } ] }, { "annotation": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" }, { "database": "PubMed", "id": "21048031", "url": "https://glygen.org/publication/PubMed/21048031" } ] }, { "annotation": "Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane (PubMed:31604315, PubMed:32209662). Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms (PubMed:31604315).", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7#function" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" }, { "database": "PubMed", "id": "32209662", "url": "https://glygen.org/publication/PubMed/32209662" } ] }, { "annotation": "TMEM189 could functionally replace CarF in M. xanthus, and knockout of TMEM189 in a human cell line eliminated plasmalogens; study reveals TMEM189 as the long-sought desaturase for animal plasmalogen biosynthesis", "evidence": [ { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "annotation": "These results assign the TMEM189 gene to plasmanylethanolamine desaturase and suggest that the previously characterized phenotype of Tmem189-deficient mice may be caused by a lack of plasmalogens.", "evidence": [ { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" }, { "database": "PubMed", "id": "32209662", "url": "https://glygen.org/publication/PubMed/32209662" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A5PLL7", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLL7" } ], "glycoeffect": [], "start_pos": 2, "end_pos": 2, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "20", "chr_pos": "48770170", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 120, "end_pos": 120, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 121, "end_pos": 121, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 130, "end_pos": 130, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 186, "end_pos": 186, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 190, "end_pos": 190, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 206, "end_pos": 206, "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 213, "end_pos": 213, "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 214, "end_pos": 214, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 217, "end_pos": 217, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 218, "end_pos": 218, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on desaturase plasmanylethanolamine activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "start_pos": 95, "end_pos": 95, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of plasmanylethanolamine desaturase activity.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] } ], "expression_tissue": [ { "tissue": { "name": "Kidney", "uberon": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Oral cavity", "uberon": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "76.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Stomach", "uberon": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Esophagus", "uberon": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Rectum", "uberon": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Urinary bladder", "uberon": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Thyroid gland", "uberon": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Liver", "uberon": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Prostate gland", "uberon": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] }, { "tissue": { "name": "Breast", "uberon": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO: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": "HPC4", "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, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12; HPC12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "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": "familial prostate cancer caused by mutation in EHBP1", "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": "prostate cancer, hereditary, 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, type 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": "HPC3", "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": "prostate cancer, hereditary, 13", "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; HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "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": "prostate cancer, hereditary, 8", "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": "HPC8", "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": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "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": "prostate cancer, familial", "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, hereditary", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "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 aggressiveness", "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; HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "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": "prostate cancer, hereditary, 1; HPC1", "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": "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": "Prca1", "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: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": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11; 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": "HPC14", "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:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14; HPC14", "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; HPC15", "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": "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, hereditary, X-linked 1; HPCX1", "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 susceptibility, X-linked", "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": "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; HPCX2", "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": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "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": "malignant tumor of body 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": "gastric neoplasm", "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 lesser curve of stomach", "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 neoplasm of body 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, intestinal", "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": "malignant tumor of greater curve of 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": "Ca lesser curvature - 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 neoplasm of stomach", "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 neoplasm of the stomach", "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": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "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": "bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "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 urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "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: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; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "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": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "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": "familial breast carcinoma", "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": "hereditary breast cancer", "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": "breast cancer, familial Male", "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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 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": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease 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"description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLL7" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "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": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "common_name": "Human" } ], "gene": [ { "name": "PEDS1", "url": "https://www.uniprot.org/uniprot/A5PLL7", "locus": {} } ], "crossref": [ { "id": "ENSG00000240849", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240849", "database": "Bgee" }, { "id": "A5PLL7", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLL7", "database": "BioMuta" }, { "id": "1.14.19.77", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.19.77&UniProtAcc=A5PLL7", "database": "BRENDA" }, { "id": "PEDS1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEDS1", "database": "GeneCards" }, { "id": "387521", "url": "https://www.ncbi.nlm.nih.gov/gene/387521", "database": "GeneID" }, { "id": "387522", "url": "https://www.ncbi.nlm.nih.gov/gene/387522", "database": "GeneID" }, { "id": "16735", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16735", "database": "HGNC" }, { "id": "A5PLL7", "url": "https://www.ebi.ac.uk/intact/interactors/id:A5PLL7*", "database": "IntAct" }, { "id": "IPR019547", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019547", "database": "InterPro" }, { "id": "hsa:387521", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:387521", "database": "KEGG Pathway" }, { "id": "hsa:387522", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:387522", "database": "KEGG Pathway" }, { "id": "610994", "url": "http://www.omim.org/entry/610994", "database": "MIM" }, { "id": "NX_A5PLL7", "url": "https://www.nextprot.org/entry/NX_A5PLL7", "database": "neXtProt" }, { "id": "RTQECIC", "url": "https://omabrowser.org/oma/group/RTQECIC/", "database": "OMA" }, { "id": "1462707at2759", "url": "http://www.orthodb.org/?query=1462707at2759", "database": "OrthoDB" }, { "id": "PF10520", "url": "http://pfam.xfam.org/family/PF10520", "database": "Pfam" }, { "id": "A5PLL7", "url": "https://pharos.nih.gov/targets/A5PLL7", "database": "PHAROS" }, { "id": "PR_A5PLL7", "url": "http://purl.obolibrary.org/obo/PR_A5PLL7", "database": "PRO" }, { "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977", "database": "RefSeq" }, { "id": "22956", "url": "https://www.rhea-db.org/rhea/22956", "database": "Rhea" }, { "id": "61960", "url": "https://www.rhea-db.org/rhea/61960", "database": "Rhea" }, { "id": "61964", "url": "https://www.rhea-db.org/rhea/61964", "database": "Rhea" }, { "id": "61968", "url": "https://www.rhea-db.org/rhea/61968", "database": "Rhea" }, { "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7", "database": "UniProtKB" }, { "id": "A5PLL7-1", "url": "https://www.uniprot.org/uniprot/A5PLL7-1", "database": "UniProtKB" }, { "id": "A5PLL7-2", "url": "https://www.uniprot.org/uniprot/A5PLL7-2", "database": "UniProtKB" }, { "id": "F8W924", "url": "https://www.uniprot.org/uniprot/F8W924", "database": "UniProtKB" }, { "id": "F8W924-1", "url": "https://www.uniprot.org/uniprot/F8W924-1", "database": "UniProtKB" }, { "id": "F8WBY2", "url": "https://www.uniprot.org/uniprot/F8WBY2", "database": "UniProtKB" }, { "id": "F8WBY2-1", "url": "https://www.uniprot.org/uniprot/F8WBY2-1", "database": "UniProtKB" }, { "id": "Q5TGE2", "url": "https://www.uniprot.org/uniprot/Q5TGE2", "database": "UniProtKB" }, { "id": "Q5TGE2-1", "url": "https://www.uniprot.org/uniprot/Q5TGE2-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPEALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGWLNYPLEKIGFWRRLEDLIQGLTGEKPRADDMKWAQKIK", "length": 270, "header": "sp|A5PLL7-1|PDES1_HUMAN Isoform 1 of Plasmanylethanolamine desaturase OS=Homo sapiens OX=9606 GN=PEDS1 PE=1 SV=3 CANONICAL=A5PLL7-1" }, "isoforms": [ { "isoform_ac": "A5PLL7-1", "url": "https://www.uniprot.org/uniprot/A5PLL7#A5PLL7-1", "sequence": { "sequence": "MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPEALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGWLNYPLEKIGFWRRLEDLIQGLTGEKPRADDMKWAQKIK", "length": 270, "header": "sp|A5PLL7-1|PDES1_HUMAN Isoform 1 of Plasmanylethanolamine desaturase OS=Homo sapiens OX=9606 GN=PEDS1 PE=1 SV=3 CANONICAL=A5PLL7-1" }, "locus": { "chromosome": "20", "start_pos": 50153637, "end_pos": 50125061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371652", "url": "https://www.ensembl.org/id/ENST00000371652" }, { "database": "Ensembl Peptide", "id": "ENSP00000360715", "url": "https://www.ensembl.org/id/ENSP00000360715" } ] } }, { "isoform_ac": "A5PLL7-2", "url": "https://www.uniprot.org/uniprot/A5PLL7#A5PLL7-2", "sequence": { "sequence": "MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPEALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGWLNYPLEKIGFWRRLEDLIQGLTGEKPRADDMKWAQKIK", "length": 267, "header": "sp|A5PLL7-2|PDES1_HUMAN Isoform 2 of Plasmanylethanolamine desaturase OS=Homo sapiens OX=9606 GN=PEDS1 PE=1 SV=3 CANONICAL=A5PLL7-1" }, "locus": { "chromosome": "20", "start_pos": 50153637, "end_pos": 50125061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371650", "url": "https://www.ensembl.org/id/ENST00000371650" }, { "database": "Ensembl Peptide", "id": "ENSP00000360713", "url": "https://www.ensembl.org/id/ENSP00000360713" } ] } }, { "isoform_ac": "F8W924-1", "url": "https://www.uniprot.org/uniprot/A5PLL7#F8W924-1", "sequence": { "sequence": "MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGVGFHPTLPGAPH", "length": 91, "header": "tr|F8W924-1|PDES1_HUMAN Computationally mapped isoform of Plasmanylethanolamine desaturase OS=Homo sapiens OX=9606 GN=PEDS1 PE=1 SV=1 CANONICAL=A5PLL7-1" }, "locus": { "chromosome": "20", "start_pos": 50153637, "end_pos": 50129659, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371658", "url": "https://www.ensembl.org/id/ENST00000371658" }, { "database": "Ensembl Peptide", "id": "ENSP00000360721", "url": "https://www.ensembl.org/id/ENSP00000360721" } ] } }, { "isoform_ac": "F8WBY2-1", "url": "https://www.uniprot.org/uniprot/A5PLL7#F8WBY2-1", "sequence": { "sequence": "MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPVPFTL", "length": 45, "header": "tr|F8WBY2-1|PDES1_HUMAN Computationally mapped isoform of Plasmanylethanolamine desaturase OS=Homo sapiens OX=9606 GN=PEDS1 PE=1 SV=1 CANONICAL=A5PLL7-1" }, "locus": { "chromosome": "20", "start_pos": 50153637, "end_pos": 50151302, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453505", "url": "https://www.ensembl.org/id/ENST00000453505" }, { "database": "Ensembl Peptide", "id": "ENSP00000411045", "url": "https://www.ensembl.org/id/ENSP00000411045" } ] } }, { "isoform_ac": "Q5TGE2-1", "url": "https://www.uniprot.org/uniprot/A5PLL7#Q5TGE2-1", "sequence": { "sequence": "MNERAIAGALIADFLSGLVHWGADTWGSVELPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPEALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGWLNYPLEKIGFWRRLEDLIQGLTGEKPRADDMKWAQKIK", "length": 195, "header": "tr|Q5TGE2-1|Q5TGE2_HUMAN Computationally mapped isoform of Plasmanylethanolamine desaturase OS=Homo sapiens OX=9606 GN=PEDS1 PE=1 SV=1 CANONICAL=A5PLL7-1" }, "locus": { "chromosome": "20", "start_pos": 50131035, "end_pos": 50125061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371656", "url": "https://www.ensembl.org/id/ENST00000371656" }, { "database": "Ensembl Peptide", "id": "ENSP00000360719", "url": "https://www.ensembl.org/id/ENSP00000360719" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene.", "journal": "Genome Res.", "date": "2000", "authors": "Carrio R., Merino J., Guigo R., Cormand B., Macaya A., Valeri M., Thomson T.M., Diaz V.M., Lozano J.J., Loukili N., Abril J., Burset M., Corominas M., Serras F.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "reference": [ { "type": "PubMed", "id": "11076860", "url": "https://glygen.org/publication/PubMed/11076860" } ] }, { "title": "Molecular basis of T cell-mediated recognition of pancreatic cancer cells.", "journal": "Cancer Res.", "date": "2001", "authors": "Ito M., Itoh K., Shichijo S., Harashima N., Ochi M., Saito N., Tsuda N.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "reference": [ { "type": "PubMed", "id": "11280764", "url": "https://glygen.org/publication/PubMed/11280764" } ] }, { "title": "Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.", "journal": "Haematologica", "date": "2011", "authors": "Casabonne D, Reina O, Benavente Y, Becker N, Maynadie M, Foretova L, Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM, de Sanjose S", "evidence": [ { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" } ], "reference": [ { "type": "PubMed", "id": "21048031", "url": "https://glygen.org/publication/PubMed/21048031" } ] }, { "title": "A bacterial light response reveals an orphan desaturase for human plasmalogen synthesis.", "journal": "Science", "date": "2019", "authors": "Fontes M., Padmanabhan S., Bastida-Martinez E., Elias-Arnanz M., Gallego-Garcia A., Iniesta A.A., Monera-Girona A.J., Pajares-Martinez E., Perez-Castano R.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" } ], "reference": [ { "type": "PubMed", "id": "31604315", "url": "https://glygen.org/publication/PubMed/31604315" } ] }, { "title": "The TMEM189 gene encodes plasmanylethanolamine desaturase which introduces the characteristic vinyl ether double bond into plasmalogens.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2020", "authors": "Berger J., Zoeller R.A., Golderer G., Hermann M., Hulo N., Keller M.A., Watschinger K., Werner E.R., Werner-Felmayer G., Koch J., Coassin S., Lackner K., Sailer S.", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" }, { "database": "RefSeq", "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977" } ], "reference": [ { "type": "PubMed", "id": "32209662", "url": "https://glygen.org/publication/PubMed/32209662" } ] } ], "pathway": [ { "id": "hsa:387521", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:387521", "resource": "KEGG Pathway" }, { "id": "hsa:387522", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:387522", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JUA8-1", "protein_name": "Transmembrane protein 189", "gene_name": "Tmem189", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "NGCLAQSSAAVEAPAACASRSPPLPLPTGKRLQEWCSVILCFSLIAHNSVHLLLLARWEHTPLVILGVVAGALVADFLSGLVHWGADTWGSVDLPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFQTQSPETLEQLYPWECFVFCLIIFGTFTNQIHKWSHTYLGLPCWVTVLQDWHVILPRKHHRIHHVAPHETYFCITTGWLNYPLEVIGFWRRLEDVIQSLTGEKPRADDMKWAQKIK", "length": 258 }, "evidence": [ { "id": "A5PLL7", "url": "https://omabrowser.org/oma/group/A5PLL7/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q99LQ7-1", "protein_name": "Plasmanylethanolamine desaturase", "gene_name": "PEDS1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGAEDAPGRQPELDEDETAEGRRWGAQHAGARELAALYSPGKRFQEWCSVILCFSLIAHNLVHLLLLARWEHTPLVILGVVAGALVADFLSGLVHWGADTWGSVDLPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTQSPETLEQLYPWECFVFCLTIFGTFTNQIHKWSHTYLGLPYWVTVLQDWHVILPRKHHRIHHVAPHETYFCITTGWLNYPLEVIGFWRRLEDLIQGLTGEKPRADDMKWAQKIK", "length": 271 }, "evidence": [ { "id": "33615", "url": "http://www.informatics.jax.org/homology/33615", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "" }, { "name": "integral component of membrane", "id": "GO:0016021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "31604315" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "" }, { "name": "ether lipid biosynthetic process", "id": "GO:0008611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008611", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "31604315" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "21873635" }, { "name": "plasmanylethanolamine desaturase activity", "id": "GO:0050207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050207", "evidence": [ { "database": "UniProtKB", "id": "A5PLL7", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ], "pmid": "31604315" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "22956", "name": "", "equation": "1-(1,2-saturated alkyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 [Fe(III)-cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5PLL7-1", "Q99LQ7-1" ], "evidence": [ { "id": "22956", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/22956" } ] }, { "id": "61960", "name": "", "equation": "2 [Fe(II)-cytochrome b5] + a 1-O-hexadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a 1-O-(1Z-hexadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5PLL7-1", "Q99LQ7-1" ], "evidence": [ { "id": "61960", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61960" } ] }, { "id": "61964", "name": "", "equation": "2 [Fe(II)-cytochrome b5] + a 1-O-octadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a 1-O-(1Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5PLL7-1", "Q99LQ7-1" ], "evidence": [ { "id": "61964", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61964" } ] }, { "id": "61968", "name": "", "equation": "2 [Fe(II)-cytochrome b5] + a 1-O-(9Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a 1-O-(1Z,9Z-octadecadienyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5PLL7-1", "Q99LQ7-1" ], "evidence": [ { "id": "61968", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61968" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A5PLL7", "gene_name": "PEDS1", "activity": [ { "ec_number": "1.14.19.77", "activity": "A plasmanylethanolamine + 2 ferrocytochrome b5 + O(2) + 2 H(+) = a plasmenylethanolamine + 2 ferricytochrome b5 + 2 H(2)O.", "evidence": [ { "id": "A5PLL7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ] }, { "ec_number": "1.14.19.77", "activity": "", "evidence": [ { "id": "A5PLL7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A5PLL7" } ] } ] }, { "uniprot_ac": "Q99LQ7", "gene_name": "PEDS1", "activity": [ { "ec_number": "1.14.19.77", "activity": "A plasmanylethanolamine + 2 ferrocytochrome b5 + O(2) + 2 H(+) = a plasmenylethanolamine + 2 ferricytochrome b5 + 2 H(2)O.", "evidence": [ { "id": "Q99LQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LQ7" } ] }, { "ec_number": "1.14.19.77", "activity": "", "evidence": [ { "id": "Q99LQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LQ7" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }