{ "uniprot_canonical_ac": "C9JE40-1", "uniprot_ac": "C9JE40", "uniprot_id": "PATL2_HUMAN", "mass": { "chemical_mass": 61464.0, "monoisotopic_mass": 61464.0 }, "refseq": { "ac": "NP_001138584", "name": "protein PAT1 homolog 2 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, "gene_names": [ { "name": "PATL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/C9JE40", "id": "C9JE40" }, { "name": "PATL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584", "id": "NP_001138584" }, { "name": "hCG_39323", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/C9JE40", "id": "C9JE40" }, { "name": "hPat1a; OOMD4; OZEMA4; Pat1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584", "id": "NP_001138584" } ], "protein_names": [ { "name": "Protein PAT1 homolog 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "C9JE40" }, { "name": "PAT1-like protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "C9JE40" }, { "name": "Pat1a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "C9JE40" }, { "name": "Protein PAT1 homolog a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "C9JE40" }, { "name": "hPat1a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "C9JE40" }, { "name": "protein PAT1 homolog 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584", "id": "NP_001138584" }, { "name": "protein PAT1 homolog 2; PAT1-like protein 2; protein PAT1 homolog a; protein associated with topoisomerase II homolog 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584", "id": "NP_001138584" } ], "function": [ { "annotation": "Data indicate PAT1 homolog 2 protein (PATL2) mutation as a major cause of oocyte meiotic deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "29661911", "url": "https://glygen.org/publication/PubMed/29661911" } ] }, { "annotation": "Mutation in PATL2 gene is associated with Female Infertility.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "28965844", "url": "https://glygen.org/publication/PubMed/28965844" } ] }, { "annotation": "Nonsense mutation in PATL2 gene is associated with Female Infertility.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "28965849", "url": "https://glygen.org/publication/PubMed/28965849" } ] }, { "annotation": "Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "32048119", "url": "https://glygen.org/publication/PubMed/32048119" } ] }, { "annotation": "Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "35091966", "url": "https://glygen.org/publication/PubMed/35091966" } ] }, { "annotation": "PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "34008465", "url": "https://glygen.org/publication/PubMed/34008465" } ] }, { "annotation": "RNA-binding protein that acts as a translational repressor.", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40#function" }, { "database": "UniProtKB", "id": "Q4V7K4", "url": "https://www.uniprot.org/uniprot/Q4V7K4#function" } ] }, { "annotation": "This study confirms previous findings that PATL2 is required for human oocyte maturation and female fertility, and also indicates the potential prognostic value of testing for PATL2 mutations in infertile women with oocyte germinal vesicle arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "29697801", "url": "https://glygen.org/publication/PubMed/29697801" } ] }, { "annotation": "This work further indicates the critical role of PATL2 in oocyte maturation and early embryo development and will provide a basis for pursuing the determination of genetic variation in PALT2 as an additional criterion for evaluating the quality of oocytes and embryos for assisted reproduction techniques.", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" }, { "database": "PubMed", "id": "30765866", "url": "https://glygen.org/publication/PubMed/30765866" } ] } ], "disease": [ { "disease_id": "MONDO:0021575", "recommended_name": { "id": "MONDO:0021575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021575", "name": "oocyte maturation defect 4", "description": "" }, "synonyms": [ { "id": "MONDO:0021575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021575", "name": "OOMD4", "description": "" }, { "id": "MONDO:0021575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021575", "name": "oocyte maturation defect 4", "description": "" }, { "id": "MIM:617743", "resource": "MIM", "url": "https://www.omim.org/entry/617743", "name": "Oocyte/zygote/embryo maturation arrest 4", "description": "Oocyte/zygote/embryo maturation arrest 4" } ], "evidence": [ { "id": "617743", "database": "MIM", "url": "https://www.omim.org/entry/617743" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "73.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "64.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "74.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229474", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229474" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "C9JE40", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/C9JE40" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" 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"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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "C9JE40", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/C9JE40" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "C9JE40", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/C9JE40" } ], "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": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "C9JE40", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/C9JE40" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY", "length": 543, "header": "sp|C9JE40-1|PATL2_HUMAN Isoform 1 of Protein PAT1 homolog 2 OS=Homo sapiens OX=9606 GN=PATL2 PE=1 SV=1 CANONICAL=C9JE40-1" }, "isoforms": [ { "isoform_ac": "C9JE40-1", "url": "", "sequence": { "sequence": "MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY", "length": 543, "header": "sp|C9JE40-1|PATL2_HUMAN Isoform 1 of Protein PAT1 homolog 2 OS=Homo sapiens OX=9606 GN=PATL2 PE=1 SV=1 CANONICAL=C9JE40-1" }, "locus": { "chromosome": "15", "start_pos": 44676490, "end_pos": 44665956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434130.6", "url": "https://www.ensembl.org/id/ENST00000434130.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000416673.1", "url": "https://www.ensembl.org/id/ENSP00000416673.1" } ] } }, { "isoform_ac": "H0YMQ2-1", "url": "", "sequence": { "sequence": "MTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY", "length": 354, "header": "tr|H0YMQ2-1|PATL2_HUMAN Computationally mapped isoform of Protein PAT1 homolog 2 OS=Homo sapiens OX=9606 GN=PATL2 PE=1 SV=1 CANONICAL=C9JE40-1" }, "locus": { "chromosome": "15", "start_pos": 44672104, "end_pos": 44665956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560780.1", "url": "https://www.ensembl.org/id/ENST00000560780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453695.1", "url": "https://www.ensembl.org/id/ENSP00000453695.1" } ] } }, { "isoform_ac": "H0YMS5-1", "url": "", "sequence": { "sequence": "QALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQDRHGGSDCLGDSPNAYSLSGRTPSFPQQPTSPVLSPRGQTIGSAAGGQDGVCLDLLICLFWNTCMWEVESSDTSYIDYVYRDPESLKTFLMPLYIGEPFPIFISFLQKSK", "length": 158, "header": "tr|H0YMS5-1|PATL2_HUMAN Computationally mapped isoform of Protein PAT1 homolog 2 OS=Homo sapiens OX=9606 GN=PATL2 PE=1 SV=1 CANONICAL=C9JE40-1" }, "locus": { "chromosome": "15", "start_pos": 44668485, "end_pos": 44665792, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558809.1", "url": "https://www.ensembl.org/id/ENST00000558809.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453723.1", "url": "https://www.ensembl.org/id/ENSP00000453723.1" } ] } }, { "isoform_ac": "H0YN77-1", "url": "", "sequence": { "sequence": "MLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPREPHFLLTTLLRKCQWWVSLKGCSSWLKVPQPRSLGLSSQT", "length": 125, "header": "tr|H0YN77-1|PATL2_HUMAN Computationally mapped isoform of Protein PAT1 homolog 2 OS=Homo sapiens OX=9606 GN=PATL2 PE=1 SV=1 CANONICAL=C9JE40-1" }, "locus": { "chromosome": "15", "start_pos": 44674191, "end_pos": 44672119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560110.1", "url": "https://www.ensembl.org/id/ENST00000560110.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453898.1", "url": "https://www.ensembl.org/id/ENSP00000453898.1" } ] } }, { "isoform_ac": "H0YNY1-1", "url": "", "sequence": { "sequence": "XENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPREPHFLLTTLLRKCQWWVSLKGCSSWLKVPQPRSLGLSSQTPMLTS", "length": 188, "header": "tr|H0YNY1-1|H0YNY1_HUMAN Computationally mapped isoform of PAT1 homolog 2 OS=Homo sapiens OX=9606 GN=PATL2 PE=4 SV=1 CANONICAL=C9JE40-1" }, "locus": { "chromosome": "15", "start_pos": 44675619, "end_pos": 44672103, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558481.5", "url": "https://www.ensembl.org/id/ENST00000558481.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454201.1", "url": "https://www.ensembl.org/id/ENSP00000454201.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Human Pat1b connects deadenylation with mRNA decapping and controls the assembly of processing bodies.", "journal": "Mol. Cell. Biol.", "date": "2010", "authors": "Ozgur S, Chekulaeva M, Stoecklin G", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "reference": [ { "type": "PubMed", "id": "20584987", "url": "https://glygen.org/publication/PubMed/20584987" } ] }, { "title": "Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.", "journal": "American journal of human genetics", "date": "2017", "authors": "Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, Ibrahim N, Abdulwahab F, Arold ST, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" }, { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "28965844", "url": "https://glygen.org/publication/PubMed/28965844" } ] }, { "title": "Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.", "journal": "American journal of human genetics", "date": "2017", "authors": "Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" }, { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "28965849", "url": "https://glygen.org/publication/PubMed/28965849" } ] }, { "title": "PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.", "journal": "EMBO molecular medicine", "date": "2018", "authors": "Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Blevec E, Karaouzene T, Conne B, Escoffier J, Assou S, Guttin A, Lambert E, Martinez G, Boguenet M, Fourati Ben Mustapha S, Cedrin Durnerin I, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Coutton C, Thierry-Mieg N, Nef S, Bottari SP, Zouari R, Issartel JP, Ray PF, Arnoult C", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "29661911", "url": "https://glygen.org/publication/PubMed/29661911" } ] }, { "title": "Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.", "journal": "Human reproduction (Oxford, England)", "date": "2018", "authors": "Huang L, Tong X, Wang F, Luo L, Jin R, Fu Y, Zhou G, Li D, Song G, Liu Y, Zhu F", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "29697801", "url": "https://glygen.org/publication/PubMed/29697801" } ] }, { "title": "Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.", "journal": "Journal of human genetics", "date": "2019", "authors": "Wu L, Chen H, Li D, Song D, Chen B, Yan Z, Lyu Q, Wang L, Kuang Y, Li B, Sang Q", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "30765866", "url": "https://glygen.org/publication/PubMed/30765866" } ] }, { "title": "Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.", "journal": "Journal of assisted reproduction and genetics", "date": "2020", "authors": "Liu Z, Zhu L, Wang J, Luo G, Xi Q, Zhou X, Li Z, Yang X, Duan J, Jin L, Zhang X", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "32048119", "url": "https://glygen.org/publication/PubMed/32048119" } ] }, { "title": "PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS.", "journal": "Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology", "date": "2021", "authors": "Peng SL, Wu QF, Xie Q, Tan J, Shu KY", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "34008465", "url": "https://glygen.org/publication/PubMed/34008465" } ] }, { "title": "Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.", "journal": "Journal of assisted reproduction and genetics", "date": "2022", "authors": "Huang L, Wang Y, Lu F, Jin Q, Song G, Ji J, Luo L, Jin R, Tong X", "evidence": [ { "database": "RefSeq", "id": "NP_001138584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138584" } ], "reference": [ { "type": "PubMed", "id": "35091966", "url": "https://glygen.org/publication/PubMed/35091966" } ] } ], "pathway": [ { "id": "hsa:197135", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:197135", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A2ARM1-1", "protein_name": "Protein PAT1 homolog 2", "gene_name": "Patl2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKCLEGLHLQQRPSKFSVSLAPEEGLVCAFQLEEEKENEDECVCSDQAPEVKEEGCGLGDPAIVSAFQNTQVPQQRGLHSSHRVKVSGALGMSSASLHFMWQSVFPRASSPAHHFGPQQPSPDPFLFYSPLTPWPPKLSLPSHLTQLHPQHQQILQQQQRWRRRRSPTARSVPAQKPWSREPAASDAYANLMTRKEKDWVIRVQMVQLQSENPRLDDYYYQKYYQKLEKRQADKELLGQKTRAESLKLVTPYIQKPEVYESVVRIEGSLGQVAVSTCFSPRRAIDAVSHGTQEQDTGAASSQRLRVLSQIEKMFLQLLKIEEGQNDGLPQLYHTREQSSQVEKLFQALKTQEQNNLEEAADNLLQVLSVRKGKVLVARLLPFLPPDQAVSLLLYITYHLPLLIQRDMADQGLHMLFKPLGKYISHLTFHQLLHAMQGLMLLSPGSSERPVSVVLQNQFGISLLYALLSHGEQLVSLDPSLRSSSDCATWTDLVILIAWEIAQLPAASLAEPLAFPRNLLPCSAITWTSN", "length": 529 }, "evidence": [ { "id": "45931935", "url": "http://www.informatics.jax.org/homology/45931935", "database": "MGI" }, { "id": "C9JE40", "url": "https://omabrowser.org/oma/group/C9JE40/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "D3Z954-1", "protein_name": "PAT1 homolog 2", "gene_name": "Patl2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKCLEGLHLQHRPSKFSVPLAPEEGLECAFQLEEEEKENEEKFVCSDWAPEGKEEGNDLWDPAIVSAIQNTQVPQQRGLHSSPTVRASGALGMSPASLHFLCQSVFPRTSSPAHHFGPQQPSPDPFLFCSPLTPWPPKLRLPSHLTQLHPQHQKILQQQQQQWSQTARRVPGQKPRSRESDAYANLMTRKEKDWVIRVQMVQLQSENPRLDDYYYQKYYQKLEKRQADQELLGQRNRAQSLKLVTPYIQKSEVYESVVRIEGSLGQVAVSTCFSPRRAIDAVSHGTQEQDTGAASSQRLRVLSQIEKMFLQLLKIEEGQNDGLPQHYHLREQSNQVEKLFQALKTQEQNNLEEAADNLLQVLSVRKGKIFVARLLPFLLQDQAVSLLLYITYHLPLLIQRDMADQSLQMLFKPLRKYIRHLTFPQLLHALQGLMLLSPDSSERPVSVVLQNQFGISLLYALLSHGEQLVSLDSSLQSSSDCVAWTDLVILVAWEIAQLPAASLAEPLAFPRNLLPCSTTTWTNN", "length": 524 }, "evidence": [ { "id": "C9JE40", "url": "https://omabrowser.org/oma/group/C9JE40/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "deadenylation-dependent decapping of nuclear-transcribed mRNA", "id": "GO:0000290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000290", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic mRNA processing body assembly", "id": "GO:0010607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010607", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "C9JE40", "url": "https://www.uniprot.org/uniprot/C9JE40" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }