{ "uniprot_canonical_ac": "O14893-1", "uniprot_ac": "O14893", "uniprot_id": "GEMI2_HUMAN", "mass": { "chemical_mass": 31585.0, "monoisotopic_mass": 31585.0 }, "refseq": { "ac": "NP_001009182", "name": "gem-associated protein 2 isoform beta", "summary": "This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" }, "gene_names": [ { "name": "GEMIN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14893", "id": "O14893" }, { "name": "GEMIN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182", "id": "NP_001009182" }, { "name": "SIP1; SIP1-delta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182", "id": "NP_001009182" }, { "name": "SIP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14893", "id": "O14893" } ], "protein_names": [ { "name": "Gem-associated protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14893" }, { "name": "Component of gems 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14893" }, { "name": "Gemin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14893" }, { "name": "SMN interacting protein 1-delta; gemin-2; component of gems 2; survival of motor neuron protein interacting protein 1; gem-associated protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182", "id": "NP_001009182" }, { "name": "SMN-interacting protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14893" }, { "name": "Survival of motor neuron protein-interacting protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14893" }, { "name": "gem-associated protein 2 isoform beta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182", "id": "NP_001009182" } ], "function": [ { "annotation": "Here we show, using crystallographic and biochemical approaches, that Gemin2 of the SMN complex enhances RNA specificity of SmD1/D2/F/E/G via a negative cooperativity between Gemin2 and RNA in binding SmD1/D2/F/E/G.", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" }, { "database": "PubMed", "id": "31799625", "url": "https://glygen.org/publication/PubMed/31799625" } ] }, { "annotation": "Investigate the oligomeric nature of the SMN.Gemin2 complexes from humans and fission yeast (hSMN.Gemin2 and ySMN.Gemin2)", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" }, { "database": "PubMed", "id": "26092730", "url": "https://glygen.org/publication/PubMed/26092730" } ] }, { "annotation": "Specific mutations in the yeast Sm protein ring expose a requirement for assembly factor Brr1, a homolog of human Gemin2.", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" }, { "database": "PubMed", "id": "27974620", "url": "https://glygen.org/publication/PubMed/27974620" } ] }, { "annotation": "The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs.", "evidence": [ { "database": "UniProtKB", "id": "A0A8J9FJK1", "url": "https://www.uniprot.org/uniprot/A0A8J9FJK1#function" }, { "database": "UniProtKB", "id": "PIRNR038038", "url": "https://www.uniprot.org/uniprot/PIRNR038038#function" }, { "database": "UniProtKB", "id": "A0A8J9FN78", "url": "https://www.uniprot.org/uniprot/A0A8J9FN78#function" }, { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893#function" }, { "database": "PubMed", "id": "18984161", "url": "https://glygen.org/publication/PubMed/18984161" }, { "database": "PubMed", "id": "31799625", "url": "https://glygen.org/publication/PubMed/31799625" }, { "database": "PubMed", "id": "9323129", "url": "https://glygen.org/publication/PubMed/9323129" }, { "database": "PubMed", "id": "21816274", "url": "https://glygen.org/publication/PubMed/21816274" }, { "database": "PubMed", "id": "16314521", "url": "https://glygen.org/publication/PubMed/16314521" }, { "database": "UniProtKB", "id": "A0A3B3IU42", "url": "https://www.uniprot.org/uniprot/A0A3B3IU42#function" } ] }, { "annotation": "The authors propose that Gemin2 is a versatile hub for ribonucleoprotein exchange that functions broadly in RNA metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" }, { "database": "PubMed", "id": "26828962", "url": "https://glygen.org/publication/PubMed/26828962" } ] }, { "annotation": "This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 213, "end_pos": 213, "sequence_org": "R", "sequence_mut": "D", "comment": "Impairs binding to SMN1.", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "PubMed", "id": "21816274", "url": "https://glygen.org/publication/PubMed/21816274" } ] }, { "start_pos": 52, "end_pos": 52, "sequence_org": "Y", "sequence_mut": "D", "comment": "Impairs binding to Sm complex proteins.", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "PubMed", "id": "21816274", "url": "https://glygen.org/publication/PubMed/21816274" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "58.21", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "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": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "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": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "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": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "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": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "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": "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 Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "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": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "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": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "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": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "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 oesophagus", "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 neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "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": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "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": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "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 neoplasm of proximal third of oesophagus", "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 neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal 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 proximal 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 tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "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": "Escc, susceptibility to", "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": "gastric cardia adenocarcinoma, susceptibility to", "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": "O14893", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14893" } ], "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:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "common_name": "Human" } ], "gene": [ { "name": "GEMIN2", "url": "https://www.uniprot.org/uniprot/O14893", "locus": { "chromosome": "14", "start_pos": 39136973, "end_pos": 39114285, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000092208", "url": "https://www.ensembl.org/id/ENSG00000092208" } ] } } ], "crossref": [ { "id": "ENSG00000092208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092208", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "GEMIN2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GEMIN2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8487", "url": "https://www.ncbi.nlm.nih.gov/gene/8487", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10884", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10884", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "G5EA29", "url": "https://www.ebi.ac.uk/intact/interactors/id:G5EA29*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O14893", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14893*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR017364", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017364", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035426", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035426", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8487", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8487", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602595", "url": "http://www.omim.org/entry/602595", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14893", "url": "https://www.nextprot.org/entry/NX_O14893", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O14893", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14893", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WTLRCEL", "url": "https://omabrowser.org/oma/group/WTLRCEL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5390889at2759", "url": "http://www.orthodb.org/?query=5390889at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12794", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12794", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12794:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12794:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12794:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12794:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2LEH", "url": "https://www.rcsb.org/structure/2LEH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJL", "url": "https://www.rcsb.org/structure/5XJL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJQ", "url": "https://www.rcsb.org/structure/5XJQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJR", "url": "https://www.rcsb.org/structure/5XJR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJS", "url": "https://www.rcsb.org/structure/5XJS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJT", "url": "https://www.rcsb.org/structure/5XJT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJU", "url": "https://www.rcsb.org/structure/5XJU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04938", "url": "http://pfam.xfam.org/family/PF04938", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14893", "url": "https://pharos.nih.gov/targets/O14893", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14893", "url": "http://purl.obolibrary.org/obo/PR_O14893", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A3B3IU42", "url": "https://www.uniprot.org/uniprot/A0A3B3IU42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU42-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IU42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J9FJK1", "url": "https://www.uniprot.org/uniprot/A0A8J9FJK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J9FJK1-1", "url": "https://www.uniprot.org/uniprot/A0A8J9FJK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J9FN78", "url": "https://www.uniprot.org/uniprot/A0A8J9FN78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J9FN78-1", "url": "https://www.uniprot.org/uniprot/A0A8J9FN78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J9FTZ9", "url": "https://www.uniprot.org/uniprot/A0A8J9FTZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J9FTZ9-1", "url": "https://www.uniprot.org/uniprot/A0A8J9FTZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5EA29", "url": "https://www.uniprot.org/uniprot/G5EA29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5EA29-1", "url": "https://www.uniprot.org/uniprot/G5EA29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YCF4", "url": "https://www.uniprot.org/uniprot/H0YCF4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YCF4-1", "url": "https://www.uniprot.org/uniprot/H0YCF4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDP6", "url": "https://www.uniprot.org/uniprot/H0YDP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDP6-1", "url": "https://www.uniprot.org/uniprot/H0YDP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEL0", "url": "https://www.uniprot.org/uniprot/H0YEL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEL0-1", "url": "https://www.uniprot.org/uniprot/H0YEL0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14893-1", "url": "https://www.uniprot.org/uniprot/O14893-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14893-2", "url": "https://www.uniprot.org/uniprot/O14893-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14893-3", "url": "https://www.uniprot.org/uniprot/O14893-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14893-4", "url": "https://www.uniprot.org/uniprot/O14893-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14893-5", "url": "https://www.uniprot.org/uniprot/O14893-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R421", "url": "https://www.uniprot.org/uniprot/S4R421", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R421-1", "url": "https://www.uniprot.org/uniprot/S4R421-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRRAELAGLKTMAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 280, "header": "sp|O14893-1|GEMI2_HUMAN Isoform 1 of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IU42-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSSISRPHVVAQACNSSTSRD", "length": 275, "header": "tr|A0A3B3IU42-1|A0A3B3IU42_HUMAN Computationally mapped isoform of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39135985, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650481.1", "url": "https://www.ensembl.org/id/ENST00000650481.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498011.1", "url": "https://www.ensembl.org/id/ENSP00000498011.1" } ] } }, { "isoform_ac": "A0A8J9FJK1-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 254, "header": "tr|A0A8J9FJK1-1|GEMI2_HUMAN Computationally mapped isoform of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39136476, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000250379.13", "url": "https://www.ensembl.org/id/ENST00000250379.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000250379.9", "url": "https://www.ensembl.org/id/ENSP00000250379.9" } ] } }, { "isoform_ac": "A0A8J9FN78-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVVF", "length": 239, "header": "tr|A0A8J9FN78-1|A0A8J9FN78_HUMAN Computationally mapped isoform of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39136445, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396249.7", "url": "https://www.ensembl.org/id/ENST00000396249.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000379548.3", "url": "https://www.ensembl.org/id/ENSP00000379548.3" } ] } }, { "isoform_ac": "A0A8J9FTZ9-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPDRSSSMSRCCGSSN", "length": 33, "header": "tr|A0A8J9FTZ9-1|A0A8J9FTZ9_HUMAN Computationally mapped isoform of Gem nuclear organelle associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39114870, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412033.7", "url": "https://www.ensembl.org/id/ENST00000412033.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000416827.3", "url": "https://www.ensembl.org/id/ENSP00000416827.3" } ] } }, { "isoform_ac": "G5EA29-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMRWGFAMLARLVLNS", "length": 138, "header": "tr|G5EA29-1|G5EA29_HUMAN Computationally mapped isoform of Gem nuclear organelle associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=2 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39121948, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525153.6", "url": "https://www.ensembl.org/id/ENST00000525153.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000436854.2", "url": "https://www.ensembl.org/id/ENSP00000436854.2" } ] } }, { "isoform_ac": "H0YCF4-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGSKQLNVQMLW", "length": 38, "header": "tr|H0YCF4-1|H0YCF4_HUMAN Computationally mapped isoform of Gem nuclear organelle associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=2 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39114860, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531684.6", "url": "https://www.ensembl.org/id/ENST00000531684.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000431500.2", "url": "https://www.ensembl.org/id/ENSP00000431500.2" } ] } }, { "isoform_ac": "H0YDP6-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFT", "length": 194, "header": "tr|H0YDP6-1|H0YDP6_HUMAN Computationally mapped isoform of Gem nuclear organelle associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=9 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39128339, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527381.2", "url": "https://www.ensembl.org/id/ENST00000527381.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000434048.2", "url": "https://www.ensembl.org/id/ENSP00000434048.2" } ] } }, { "isoform_ac": "H0YEL0-1", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLV", "length": 214, "header": "tr|H0YEL0-1|H0YEL0_HUMAN Computationally mapped isoform of Gem nuclear organelle associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=2 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39132068, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534684.7", "url": "https://www.ensembl.org/id/ENST00000534684.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000436065.2", "url": "https://www.ensembl.org/id/ENSP00000436065.2" } ] } }, { "isoform_ac": "O14893-1", "url": "", "sequence": { "sequence": "MRRAELAGLKTMAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 280, "header": "sp|O14893-1|GEMI2_HUMAN Isoform 1 of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": {} }, { "isoform_ac": "O14893-2", "url": "", "sequence": { "sequence": "MRRAELAGLKTMAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 265, "header": "sp|O14893-2|GEMI2_HUMAN Isoform 2 of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": {} }, { "isoform_ac": "O14893-3", "url": "", "sequence": { "sequence": "MRRAELAGLKTMAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVVF", "length": 250, "header": "sp|O14893-3|GEMI2_HUMAN Isoform 3 of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": {} }, { "isoform_ac": "O14893-4", "url": "", "sequence": { "sequence": "MRRAELAGLKTMAWVPAESAVEELMPRLLPDRSSSMSRCCGSSN", "length": 44, "header": "sp|O14893-4|GEMI2_HUMAN Isoform 4 of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": {} }, { "isoform_ac": "O14893-5", "url": "", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 269, "header": "sp|O14893-5|GEMI2_HUMAN Isoform 5 of Gem-associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39136476, "end_pos": 39114339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000308317.12", "url": "https://www.ensembl.org/id/ENST00000308317.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000308533.7", "url": "https://www.ensembl.org/id/ENSP00000308533.7" } ] } }, { "isoform_ac": "S4R421-1", "url": "", "sequence": { "sequence": "DSKDDERVPALNLLICLVSRYS", "length": 22, "header": "tr|S4R421-1|S4R421_HUMAN Computationally mapped isoform of Gem nuclear organelle associated protein 2 OS=Homo sapiens OX=9606 GN=GEMIN2 PE=1 SV=1 CANONICAL=O14893-1" }, "locus": { "chromosome": "14", "start_pos": 39133726, "end_pos": 39133661, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524781.1", "url": "https://www.ensembl.org/id/ENST00000524781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000474979.1", "url": "https://www.ensembl.org/id/ENSP00000474979.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O14893", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14893" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 166, "end_pos": 166, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "site_lbl": "Ser166" }, { "start_pos": 171, "end_pos": 171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Tyr171" }, { "start_pos": 48, "end_pos": 48, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O14893", "url": "http://phospho.elm.eu.org/byAccession/O14893.html" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Thr48" }, { "start_pos": 81, "end_pos": 81, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "site_lbl": "Ser81" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Pellizzoni L, Charroux B, Dreyfuss G", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "10500148", "url": "https://glygen.org/publication/PubMed/10500148" } ] }, { "title": "Newly assembled snRNPs associate with coiled bodies before speckles, suggesting a nuclear snRNP maturation pathway.", "journal": "Current biology : CB", "date": "1999", "authors": "Sleeman JE, Lamond AI", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "10531003", "url": "https://glygen.org/publication/PubMed/10531003" } ] }, { "title": "Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.", "journal": "Human molecular genetics", "date": "1999", "authors": "Buhler D, Raker V, Luhrmann R, Fischer U", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "10556282", "url": "https://glygen.org/publication/PubMed/10556282" } ] }, { "title": "Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Charroux B, Pellizzoni L, Perkinson RA, Shevchenko A, Mann M, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "10601333", "url": "https://glygen.org/publication/PubMed/10601333" } ] }, { "title": "Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Charroux B, Pellizzoni L, Perkinson RA, Yong J, Shevchenko A, Mann M, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "10725331", "url": "https://glygen.org/publication/PubMed/10725331" } ] }, { "title": "Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Friesen WJ, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "10851237", "url": "https://glygen.org/publication/PubMed/10851237" } ] }, { "title": "An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).", "journal": "Eur. J. Hum. Genet.", "date": "2000", "authors": "Helmken C, Wetter A, Rudnik-Sch\u00f6neborn S, Liehr T, Zerres K, Wirth B", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "10909848", "url": "https://glygen.org/publication/PubMed/10909848" } ] }, { "title": "The evolutionarily conserved region of the U snRNA export mediator PHAX is a novel RNA-binding domain that is essential for U snRNA export.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Segref A, Mattaj IW, Ohno M", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "11333016", "url": "https://glygen.org/publication/PubMed/11333016" } ] }, { "title": "Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "11714716", "url": "https://glygen.org/publication/PubMed/11714716" } ] }, { "title": "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "11748230", "url": "https://glygen.org/publication/PubMed/11748230" } ] }, { "title": "Increased expression level of the splicing variant of SIP1 in motor neuron diseases.", "journal": "Int. J. Biochem. Cell Biol.", "date": "2002", "authors": "Aerbajinai Wulin, Ishihara Tadayuki, Arahata Kiichi, Tsukahara Toshifumi", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "11943600", "url": "https://glygen.org/publication/PubMed/11943600" } ] }, { "title": "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "12065586", "url": "https://glygen.org/publication/PubMed/12065586" } ] }, { "title": "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.", "journal": "Human molecular genetics", "date": "2002", "authors": "Narayanan U, Ospina JK, Frey MR, Hebert MD, Matera AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "12095920", "url": "https://glygen.org/publication/PubMed/12095920" } ] }, { "title": "SMN-mediated assembly of RNPs: a complex story.", "journal": "Trends in cell biology", "date": "2002", "authors": "Meister G, Eggert C, Fischer U", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "12441251", "url": "https://glygen.org/publication/PubMed/12441251" } ] }, { "title": "Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron.", "journal": "EMBO reports", "date": "2003", "authors": "Mouaikel J, Narayanan U, Verheggen C, Matera AG, Bertrand E, Tazi J, Bordonne R", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "12776181", "url": "https://glygen.org/publication/PubMed/12776181" } ] }, { "title": "Specific sequence features, recognized by the SMN complex, identify snRNAs and determine their fate as snRNPs.", "journal": "Molecular and cellular biology", "date": "2005-12", "authors": "Golembe Tracey J, Yong Jeongsik, Dreyfuss Gideon", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "16314521", "url": "https://glygen.org/publication/PubMed/16314521" } ] }, { "title": "A comprehensive interaction map of the human survival of motor neuron (SMN) complex.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Otter Simon, Grimmler Matthias, Neuenkirchen Nils, Chari Ashwin, Sickmann Albert, Fischer Utz", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "17178713", "url": "https://glygen.org/publication/PubMed/17178713" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs.", "journal": "Cell", "date": "2008", "authors": "Chari A, Golas MM, Klingenhager M, Neuenkirchen N, Sander B, Englbrecht C, Sickmann A, Stark H, Fischer U", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "18984161", "url": "https://glygen.org/publication/PubMed/18984161" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "A two-pronged strategy to suppress host protein synthesis by SARS coronavirus Nsp1 protein.", "journal": "Nature structural & molecular biology", "date": "2009", "authors": "Kamitani W, Huang C, Narayanan K, Lokugamage KG, Makino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "19838190", "url": "https://glygen.org/publication/PubMed/19838190" } ] }, { "title": "Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly.", "journal": "Cell", "date": "2011", "authors": "Zhang R, So BR, Li P, Yong J, Glisovic T, Wan L, Dreyfuss G", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "21816274", "url": "https://glygen.org/publication/PubMed/21816274" } ] }, { "title": "Solution structure of the core SMN-Gemin2 complex.", "journal": "Biochem. J.", "date": "2012", "authors": "Sarachan KL, Valentine KG, Gupta K, Moorman VR, Gledhill JM Jr, Bernens M, Tommos C, Wand AJ, Van Duyne GD", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "22607171", "url": "https://glygen.org/publication/PubMed/22607171" } ] }, { "title": "The survival motor neuron protein forms soluble glycine zipper oligomers.", "journal": "Structure", "date": "2012", "authors": "Martin R, Gupta K, Ninan NS, Perry K, Van Duyne GD", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "23022347", "url": "https://glygen.org/publication/PubMed/23022347" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14893", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14893" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "iPTMnet", "id": "O14893", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14893" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Oligomeric Properties of Survival Motor Neuron.Gemin2 Complexes.", "journal": "J. Biol. Chem.", "date": "2015", "authors": "Gupta K, Martin R, Sharp R, Sarachan KL, Ninan NS, Van Duyne GD", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" } ], "reference": [ { "type": "PubMed", "id": "26092730", "url": "https://glygen.org/publication/PubMed/26092730" } ] }, { "title": "A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange.", "journal": "Nature structural & molecular biology", "date": "2016", "authors": "So BR, Wan L, Zhang Z, Li P, Babiash E, Duan J, Younis I, Dreyfuss G", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" } ], "reference": [ { "type": "PubMed", "id": "26828962", "url": "https://glygen.org/publication/PubMed/26828962" } ] }, { "title": "Will the circle be unbroken: specific mutations in the yeast Sm protein ring expose a requirement for assembly factor Brr1, a homolog of Gemin2.", "journal": "RNA (New York, N.Y.)", "date": "2017", "authors": "Schwer B, Roth AJ, Shuman S", "evidence": [ { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" } ], "reference": [ { "type": "PubMed", "id": "27974620", "url": "https://glygen.org/publication/PubMed/27974620" } ] }, { "title": "Negative cooperativity between Gemin2 and RNA provides insights into RNA selection and the SMN complex's release in snRNP assembly.", "journal": "Nucleic acids research", "date": "2020", "authors": "Yi H, Mu L, Shen C, Kong X, Wang Y, Hou Y, Zhang R", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" }, { "database": "RefSeq", "id": "NP_001009182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009182" } ], "reference": [ { "type": "PubMed", "id": "31799625", "url": "https://glygen.org/publication/PubMed/31799625" } ] }, { "title": "Structural basis for translational shutdown and immune evasion by the Nsp1 protein of SARS-CoV-2.", "journal": "Science (New York, N.Y.)", "date": "2020", "authors": "Thoms M, Buschauer R, Ameismeier M, Koepke L, Denk T, Hirschenberger M, Kratzat H, Hayn M, Mackens-Kiani T, Cheng J, Straub JH, Sturzel CM, Frohlich T, Berninghausen O, Becker T, Kirchhoff F, Sparrer KMJ, Beckmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "32680882", "url": "https://glygen.org/publication/PubMed/32680882" } ] }, { "title": "SARS-CoV-2 Nsp1 binds the ribosomal mRNA channel to inhibit translation.", "journal": "Nature structural & molecular biology", "date": "2020", "authors": "Schubert K, Karousis ED, Jomaa A, Scaiola A, Echeverria B, Gurzeler LA, Leibundgut M, Thiel V, Muhlemann O, Ban N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "32908316", "url": "https://glygen.org/publication/PubMed/32908316" } ] }, { "title": "Genes with 5' terminal oligopyrimidine tracts preferentially escape global suppression of translation by the SARS-CoV-2 Nsp1 protein.", "journal": "bioRxiv : the preprint server for biology", "date": "2021", "authors": "Rao S, Hoskins I, Tonn T, Garcia PD, Ozadam H, Cenik ES, Cenik C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "32995776", "url": "https://glygen.org/publication/PubMed/32995776" } ] }, { "title": "SARS-CoV-2 Nsp1 suppresses host but not viral translation through a bipartite mechanism.", "journal": "bioRxiv : the preprint server for biology", "date": "2020", "authors": "Shi M, Wang L, Fontana P, Vora S, Zhang Y, Fu TM, Lieberman J, Wu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "32995777", "url": "https://glygen.org/publication/PubMed/32995777" } ] }, { "title": "SARS-CoV-2 Disrupts Splicing, Translation, and Protein Trafficking to Suppress Host Defenses.", "journal": "Cell", "date": "2020", "authors": "Banerjee AK, Blanco MR, Bruce EA, Honson DD, Chen LM, Chow A, Bhat P, Ollikainen N, Quinodoz SA, Loney C, Thai J, Miller ZD, Lin AE, Schmidt MM, Stewart DG, Goldfarb D, De Lorenzo G, Rihn SJ, Voorhees RM, Botten JW, Majumdar D, Guttman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "33080218", "url": "https://glygen.org/publication/PubMed/33080218" } ] }, { "title": "Nonstructural Protein 1 of SARS-CoV-2 Is a Potent Pathogenicity Factor Redirecting Host Protein Synthesis Machinery toward Viral RNA.", "journal": "Molecular cell", "date": "2020", "authors": "Yuan S, Peng L, Park JJ, Hu Y, Devarkar SC, Dong MB, Shen Q, Wu S, Chen S, Lomakin IB, Xiong Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "33188728", "url": "https://glygen.org/publication/PubMed/33188728" } ] }, { "title": "The viral protein NSP1 acts as a ribosome gatekeeper for shutting down host translation and fostering SARS-CoV-2 translation.", "journal": "RNA (New York, N.Y.)", "date": "2020", "authors": "Tidu A, Janvier A, Schaeffer L, Sosnowski P, Kuhn L, Hammann P, Westhof E, Eriani G, Martin F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "33268501", "url": "https://glygen.org/publication/PubMed/33268501" } ] }, { "title": "Dynamic competition between SARS-CoV-2 NSP1 and mRNA on the human ribosome inhibits translation initiation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021-02-09", "authors": "Lapointe Christopher P, Grosely Rosslyn, Johnson Alex G, Wang Jinfan, Fern\u00e1ndez Israel S, Puglisi Joseph D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "33479166", "url": "https://glygen.org/publication/PubMed/33479166" } ] }, { "title": "SARS-CoV-2 infection triggers widespread host mRNA decay leading to an mRNA export block.", "journal": "RNA (New York, N.Y.)", "date": "2021", "authors": "Burke JM, St Clair LA, Perera R, Parker R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "34315815", "url": "https://glygen.org/publication/PubMed/34315815" } ] }, { "title": "Targeted in situ cross-linking mass spectrometry and integrative modeling reveal the architectures of three proteins from SARS-CoV-2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021", "authors": "Slavin M, Zamel J, Zohar K, Eliyahu T, Braitbard M, Brielle E, Baraz L, Stolovich-Rain M, Friedman A, Wolf DG, Rouvinski A, Linial M, Schneidman-Duhovny D, Kalisman N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "34373319", "url": "https://glygen.org/publication/PubMed/34373319" } ] }, { "title": "The N-terminal domain of SARS-CoV-2\u00a0nsp1 plays key roles in suppression of cellular gene expression and preservation of viral gene expression.", "journal": "Cell reports", "date": "2021-10-19", "authors": "Mendez Aaron S, Ly Michael, Gonz\u00e1lez-S\u00e1nchez Ang\u00e9lica M, Hartenian Ella, Ingolia Nicholas T, Cate Jamie H, Glaunsinger Britt A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "34624207", "url": "https://glygen.org/publication/PubMed/34624207" } ] }, { "title": "Structural insights into the activity regulation of full-length non-structural protein 1 from SARS-CoV-2.", "journal": "Structure (London, England : 1993)", "date": "2023-02-02", "authors": "Wang Ying, Kirkpatrick John, Lage Susanne Zur, Carlomagno Teresa", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754678", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678" } ], "reference": [ { "type": "PubMed", "id": "36610391", "url": "https://glygen.org/publication/PubMed/36610391" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14893", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14893" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "m3G cap hypermethylation of U1 small nuclear ribonucleoprotein (snRNP) in vitro: evidence that the U1 small nuclear RNA-(guanosine-N2)-methyltransferase is a non-snRNP cytoplasmic protein that requires a binding site on the Sm core domain.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Plessel G, Fischer U, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "8196654", "url": "https://glygen.org/publication/PubMed/8196654" } ] }, { "title": "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.", "journal": "Cell", "date": "1997-09-19", "authors": "Liu Q, Fischer U, Wang F, Dreyfuss G", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "reference": [ { "type": "PubMed", "id": "9323129", "url": "https://glygen.org/publication/PubMed/9323129" } ] }, { "title": "A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.", "journal": "Cell", "date": "1998", "authors": "Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "9845364", "url": "https://glygen.org/publication/PubMed/9845364" } ] } ], "pathway": [ { "id": "hsa:8487", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8487", "resource": "KEGG Pathway" }, { "id": "R-HSA-191859", "name": "snRNP Assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859", "resource": "Reactome", "description": "snRNP Assembly" }, { "id": "R-HSA-9754678", "name": "SARS-CoV-2 modulates host translation machinery", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754678", "resource": "Reactome", "description": "SARS-CoV-2 modulates host translation machinery" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9CQQ4-1", "protein_name": "Gem-associated protein 2", "gene_name": "Gemin2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAHFSTVRQSVHKHRNHWKSQQLDSNVAMPKSEDEEGWKKFCLGERLCAEGATGPSTEESPGIDYVQVGFPPLLSIVSRMNQTTITSVLEYLSNWFGERDFTPELGRWFYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVGSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 269 }, "evidence": [ { "id": "45919943", "url": "http://www.informatics.jax.org/homology/45919943", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QZP1-1", "protein_name": "Gem-associated protein 2", "gene_name": "Gemin2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNVSLSGCHPAPEGYSPTLQWQQQQVIQFSSVRQSVHKHRNHWKSQQLDSNVTMPKSEDEEGWKKFCLGERLCAEGATGPSTDESPGIDYVQVGFPPLLSIVSRMNQATITSVLEYLSNWFGERDFTPELGRWFYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVGSKDDERVPALNLLICLVSRYFDQRDLADEPS", "length": 269 }, "evidence": [ { "id": "45919943", "url": "http://www.informatics.jax.org/homology/45919943", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "SMN complex", "id": "GO:0032797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032797", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "SMN-Sm protein complex", "id": "GO:0034719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034719", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "Gemini of coiled bodies", "id": "GO:0097504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097504", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "spliceosomal complex assembly", "id": "GO:0000245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000245", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "RNA splicing, via transesterification reactions", "id": "GO:0000375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000375", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" }, { "name": "negative regulation of RNA binding", "id": "GO:1905215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905215", "evidence": [ { "database": "UniProtKB", "id": "O14893", "url": "https://www.uniprot.org/uniprot/O14893" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 132, "end_pos": 134, "annotation": "n_glycosylation_sequon" }, { "start_pos": 164, "end_pos": 166, "annotation": "n_glycosylation_sequon" }, { "start_pos": 83, "end_pos": 85, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 48, 81, 166, 171 ], "sequon_annotation_sites": [ { "start_pos": 132, "end_pos": 134 }, { "start_pos": 164, "end_pos": 166 }, { "start_pos": 83, "end_pos": 85 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "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": 48 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }