{ "uniprot_canonical_ac": "A4D126-1", "uniprot_ac": "A4D126", "uniprot_id": "ISPD_HUMAN", "mass": { "chemical_mass": 49873.0, "monoisotopic_mass": 49873.0 }, "refseq": { "ac": "NP_001094887", "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b", "summary": "This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, "gene_names": [ { "name": "CRPPA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126" }, { "name": "ISPD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126" } ], "protein_names": [ { "name": "D-ribitol-5-phosphate cytidylyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D126#names_and_taxonomy", "id": "A4D126" }, { "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D126#names_and_taxonomy", "id": "A4D126" }, { "name": "2.7.7.40", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D126#names_and_taxonomy", "id": "A4D126" }, { "name": "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; notch1-induced protein; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; testicular tissue protein Li 97; D-ribitol-5-phosphate cytidylyltransferase; isoprenoid synthase domain containing", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "id": "NP_001094887" }, { "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "id": "NP_001094887" }, { "name": "Isoprenoid synthase domain-containing protein", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D126#names_and_taxonomy", "id": "A4D126" }, { "name": "hISPD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D126#names_and_taxonomy", "id": "A4D126" } ], "function": [ { "annotation": "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "31909476", "url": "https://glygen.org/publication/PubMed/31909476" } ] }, { "annotation": "Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126#function" }, { "database": "PubMed", "id": "27130732", "url": "https://glygen.org/publication/PubMed/27130732" }, { "database": "PubMed", "id": "22522421", "url": "https://glygen.org/publication/PubMed/22522421" }, { "database": "PubMed", "id": "26687144", "url": "https://glygen.org/publication/PubMed/26687144" }, { "database": "PubMed", "id": "22522420", "url": "https://glygen.org/publication/PubMed/22522420" }, { "database": "PubMed", "id": "26923585", "url": "https://glygen.org/publication/PubMed/26923585" }, { "database": "PubMed", "id": "27601598", "url": "https://glygen.org/publication/PubMed/27601598" } ] }, { "annotation": "Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "33290265", "url": "https://glygen.org/publication/PubMed/33290265" } ] }, { "annotation": "ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "27194101", "url": "https://glygen.org/publication/PubMed/27194101" } ] }, { "annotation": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "22522420", "url": "https://glygen.org/publication/PubMed/22522420" } ] }, { "annotation": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "22522421", "url": "https://glygen.org/publication/PubMed/22522421" } ] }, { "annotation": "TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "23217329", "url": "https://glygen.org/publication/PubMed/23217329" } ] }, { "annotation": "This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ] } ], "disease": [ { "disease_id": "DOID:0110295", "recommended_name": { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "autosomal recessive limb-girdle muscular dystrophy type 2U", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21." }, "synonyms": [ { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "LGMD2U", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "MDDGC7", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "muscular dystrophy limb-girdle type 2U", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "autosomal recessive limb-girdle muscular dystrophy type 2U", "description": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy limb-girdle type 2U", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "ISPD autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "MDDGC7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "LGMD2U", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy, limb-girdle, type 2U", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; MDDGC7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency", "description": "" }, { "id": "MIM:616052", "resource": "MIM", "url": "https://www.omim.org/entry/616052", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C7", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C7" } ], "evidence": [ { "id": "616052", "database": "MIM", "url": "https://www.omim.org/entry/616052" } ] }, { "disease_id": "DOID:0111234", "recommended_name": { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "congenital muscular dystrophy-dystroglycanopathy A7", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1." }, "synonyms": [ { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related", "description": "" }, { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7", "description": "" }, { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "MDDGA7", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7", "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "ISPD muscular dystrophy-dystroglycanopathy, type A", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "MDDGA7", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7", "description": "" }, { "id": "MIM:614643", "resource": "MIM", "url": "https://www.omim.org/entry/614643", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7" } ], "evidence": [ { "id": "0013835", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835" }, { "id": "614643", "database": "MIM", "url": "https://www.omim.org/entry/614643" } ] } ], "snv": [ { "evidence": [ { "id": "A4D126", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126" } ], "glycoeffect": [], "start_pos": 24, "end_pos": 24, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "A", "sequence_mut": "E", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "7", "chr_pos": "16460877", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A4D126", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126" } ], "glycoeffect": [], "start_pos": 33, "end_pos": 33, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "7", "chr_pos": "16460850", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A4D126", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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(2.0%).", "chr_id": "7", "chr_pos": "16255765", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease 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"id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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"http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1; LNCR1", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3; LNCR3", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease 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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "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": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "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": "malignant neoplasm of middle third of oesophagus", "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": "cancer of esophagus", "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": "esophagus cancer", "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 neoplasm of distal third of 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 tumor of abdominal 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 esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "common_name": "Human" } ], "gene": [ { "name": "CRPPA", "url": "https://www.uniprot.org/uniprot/A4D126", "locus": {} } ], "crossref": [ { "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960", "database": "Bgee" }, { "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D126", "database": "BioMuta" }, { "id": "2.7.7.40", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.7.7.40&UniProtAcc=A4D126", "database": "BRENDA" }, { "id": "cd02516", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02516", "database": "CDD" }, { "id": "CRPPA", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRPPA", "database": "GeneCards" }, { "id": "729920", "url": "https://www.ncbi.nlm.nih.gov/gene/729920", "database": "GeneID" }, { "id": "37276", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37276", "database": "HGNC" }, { "id": "A4D126", "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D126*", "database": "IntAct" }, { "id": "IPR018294", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018294", "database": "InterPro" }, { "id": "IPR029044", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "database": "InterPro" }, { "id": "IPR034683", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034683", "database": "InterPro" }, { "id": "IPR040635", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040635", "database": "InterPro" }, { "id": "hsa:729920", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729920", "database": "KEGG Pathway" }, { "id": "614631", "url": "http://www.omim.org/entry/614631", "database": "MIM" }, { "id": "614643", "url": "http://www.omim.org/entry/614643", "database": "MIM" }, { "id": "616052", "url": "http://www.omim.org/entry/616052", "database": "MIM" }, { "id": "NX_A4D126", "url": "https://www.nextprot.org/entry/NX_A4D126", "database": "neXtProt" }, { "id": "MESLMWI", "url": "https://omabrowser.org/oma/group/MESLMWI/", "database": "OMA" }, { "id": "1356473at2759", "url": "http://www.orthodb.org/?query=1356473at2759", "database": "OrthoDB" }, { "id": "4CVH", "url": "https://www.rcsb.org/structure/4CVH", "database": "PDB" }, { "id": "PF01128", "url": "http://pfam.xfam.org/family/PF01128", "database": "Pfam" }, { "id": "PF18706", "url": "http://pfam.xfam.org/family/PF18706", "database": "Pfam" }, { "id": "A4D126", "url": "https://pharos.nih.gov/targets/A4D126", "database": "PHAROS" }, { "id": "PR_A4D126", "url": "http://purl.obolibrary.org/obo/PR_A4D126", "database": "PRO" }, { "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "database": "RefSeq" }, { "id": "XP_011513810", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011513810", "database": "RefSeq" }, { "id": "12456", "url": "https://www.rhea-db.org/rhea/12456", "database": "Rhea" }, { "id": "53612", "url": "https://www.rhea-db.org/rhea/53612", "database": "Rhea" }, { "id": "53872", "url": "https://www.rhea-db.org/rhea/53872", "database": "Rhea" }, { "id": "A0A6Q8PF75", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF75", "database": "UniProtKB" }, { "id": "A0A6Q8PF75-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF75-1", "database": "UniProtKB" }, { "id": "A0A6Q8PG39", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG39", "database": "UniProtKB" }, { "id": "A0A6Q8PG39-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG39-1", "database": "UniProtKB" }, { "id": "A0A6Q8PHI3", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI3", "database": "UniProtKB" }, { "id": "A0A6Q8PHI3-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI3-1", "database": "UniProtKB" }, { "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126", "database": "UniProtKB" }, { "id": "A4D126-1", "url": "https://www.uniprot.org/uniprot/A4D126-1", "database": "UniProtKB" }, { "id": "A4D126-2", "url": "https://www.uniprot.org/uniprot/A4D126-2", "database": "UniProtKB" } ], "sequence": { "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 451, "header": "sp|A4D126-1|ISPD_HUMAN Isoform 1 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF75-1", "url": "https://www.uniprot.org/uniprot/A4D126#A0A6Q8PF75-1", "sequence": { "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 315, "header": "tr|A0A6Q8PF75-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16406291, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675257", "url": "https://www.ensembl.org/id/ENST00000675257" }, { "database": "Ensembl Peptide", "id": "ENSP00000501664", "url": "https://www.ensembl.org/id/ENSP00000501664" } ] } }, { "isoform_ac": "A0A6Q8PG39-1", "url": "https://www.uniprot.org/uniprot/A4D126#A0A6Q8PG39-1", "sequence": { "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 350, "header": "tr|A0A6Q8PG39-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16406291, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676325", "url": "https://www.ensembl.org/id/ENST00000676325" }, { "database": "Ensembl Peptide", "id": "ENSP00000502074", "url": "https://www.ensembl.org/id/ENSP00000502074" } ] } }, { "isoform_ac": "A0A6Q8PHI3-1", "url": "https://www.uniprot.org/uniprot/A4D126#A0A6Q8PHI3-1", "sequence": { "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVK", "length": 301, "header": "tr|A0A6Q8PHI3-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16406291, "end_pos": 16216111, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674759", "url": "https://www.ensembl.org/id/ENST00000674759" }, { "database": "Ensembl Peptide", "id": "ENSP00000502749", "url": "https://www.ensembl.org/id/ENSP00000502749" } ] } }, { "isoform_ac": "A4D126-1", "url": "https://www.uniprot.org/uniprot/A4D126#A4D126-1", "sequence": { "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 451, "header": "sp|A4D126-1|ISPD_HUMAN Isoform 1 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16421322, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407010", "url": "https://www.ensembl.org/id/ENST00000407010" }, { "database": "Ensembl Peptide", "id": "ENSP00000385478", "url": "https://www.ensembl.org/id/ENSP00000385478" } ] } }, { "isoform_ac": "A4D126-2", "url": "https://www.uniprot.org/uniprot/A4D126#A4D126-2", "sequence": { "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 401, "header": "sp|A4D126-2|ISPD_HUMAN Isoform 2 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16421322, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399310", "url": "https://www.ensembl.org/id/ENST00000399310" }, { "database": "Ensembl Peptide", "id": "ENSP00000382249", "url": "https://www.ensembl.org/id/ENSP00000382249" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "journal": "Nat. Genet.", "date": "2012", "authors": "Lee H., Muntoni F., Nelson S.F., Dobyns W.B., Voit T., Campbell K.P., Cirak S., Venzke D., Willer T., Yoshida-Moriguchi T., Mathews K.D., Moore S.A., Schachter H., de Bernabe D.B., Winder T.L., Loder A.S., Lommel M., Strahl S., Vajsar J.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" }, { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "22522420", "url": "https://glygen.org/publication/PubMed/22522420" } ] }, { "title": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "journal": "Nat. Genet.", "date": "2012", "authors": "Chitayat D., Devriendt K., Kayserili H., Sheridan E., Zhou H., Brunner H.G., Gilissen C., Veltman J.A., Vissers L.E., van Bokhoven H., Mancini G.M., Roscioli T., Kamsteeg E.J., Lefeber D.J., Bennett C., van Reeuwijk J., Peeters E.A., Buysse K., Lin Y.Y., Riemersma M., Stemple D.L., van Beusekom E., van den Elzen C., Schraders M., Pfundt R., Willemsen M.A., Altunoglu U., de Die-Smulders C.E., Buckley M.F., Maystadt I., Delree P., El-Hashash O.A., Grisart B., Ramadza D.P., Tan-Sindhunata G.M.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" }, { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "22522421", "url": "https://glygen.org/publication/PubMed/22522421" } ] }, { "title": "Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.", "journal": "Am. J. Hum. Genet.", "date": "2012", "authors": "Attie-Bitach T., Aziza J., Bonniere M., Encha-Razavi F., Gonzales M., Laquerriere A., Odent S., Seta N., Vuillaumier-Barrot S., Fallet-Bianco C., Loget P., Bole-Feysot C., Devisme L., Gazal S., Grandchamp B., Bazin A., Loeuillet L., Bouchet-Seraphin C., Chelbi M., Guimiot F., Bernard J.P., Carles D., Clemenson A., Monnot S., Quentin S., Socha K.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" }, { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "23217329", "url": "https://glygen.org/publication/PubMed/23217329" } ] }, { "title": "ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.", "journal": "Brain", "date": "2013", "authors": "Nuernberg P., Muntoni F., Sewry C.A., Voit T., Plagnol V., Brodd L., Campbell K.P., Cirak S., Foley A.R., Hurles M., Stevens E., Torelli S., Willer T., Yau S., Herrmann R., Vondracek P., Michele D.E., Moore S.A., Longman C., Korinthenberg R., Roper H., Kamynina A., Marrosu G.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "23288328", "url": "https://glygen.org/publication/PubMed/23288328" } ] }, { "title": "Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.", "journal": "Neurology", "date": "2013", "authors": "Bertini E., Bruno C., Santorelli F.M., Aiello C., Ricci E., Tasca G., Cassandrini D., Fiorillo C., Moro F.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "23390185", "url": "https://glygen.org/publication/PubMed/23390185" } ] }, { "title": "160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.", "journal": "Eur. J. Med. Genet.", "date": "2013", "authors": "Wieczorek D., Hehr U., Czeschik J.C., Luedecke H.J., Hartmann B., Rosenbaum T., Schweiger B.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "24120487", "url": "https://glygen.org/publication/PubMed/24120487" } ] }, { "title": "Human ISPD is a cytidyltransferase required for dystroglycan O-mannosylation.", "journal": "Chem. Biol.", "date": "2015", "authors": "von Delft F., van Bokhoven H., Yue W.W., Engelke U.F., Lefeber D.J., Endo T., Tessari M., Riemersma M., Froese D.S., Ashikov A., van Scherpenzeel M., Swiezewska E., Brummelkamp T.R., Krojer T., Kopec J., Buczkowska A., Jae L.T., Manya H., van Tol W.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "26687144", "url": "https://glygen.org/publication/PubMed/26687144" } ] }, { "title": "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.", "journal": "Cell Rep.", "date": "2016", "authors": "Kobayashi K., Shinohara Y., Yamaguchi Y., Toda T., Endo T., Mizuno M., Wada Y., Kawakami H., Kanagawa M., Tajiri M., Manya H., Akasaka-Manya K., Furukawa J.I., Kuga A.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "26923585", "url": "https://glygen.org/publication/PubMed/26923585" } ] }, { "title": "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.", "journal": "Nature communications", "date": "2016", "authors": "Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "27194101", "url": "https://glygen.org/publication/PubMed/27194101" } ] }, { "title": "Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.", "journal": "Clin. Genet.", "date": "2017", "authors": "Kariminejad A., Najmabadi H., Nafissi S., Kahrizi K., Abolhassani A., Akbari M.R., Beheshtian M., Fadaee M., Fattahi Z., Kalhor Z., Nilipour Y., Parsimehr E., Vazehan R., Zamani G.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "27234031", "url": "https://glygen.org/publication/PubMed/27234031" } ] }, { "title": "Direct mapping of additional modifications on phosphorylated O-glycans of alpha-dystroglycan by mass spectrometry analysis in conjunction with knocking out of causative genes for dystroglycanopathy.", "journal": "Mol. Cell. Proteomics", "date": "2016", "authors": "Kato K., Yagi H., Kuo C.W., Khoo K.H., Ninagawa S., Obayashi T.", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "27601598", "url": "https://glygen.org/publication/PubMed/27601598" } ] }, { "title": "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.", "journal": "Clinical genetics", "date": "2020", "authors": "Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X, Toda T, Wu X, Xiong H", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "31909476", "url": "https://glygen.org/publication/PubMed/31909476" } ] }, { "title": "Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis.", "journal": "Aging", "date": "2020", "authors": "Hu Q, Gu Y, Chen S, Tian Y, Yang S", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "33290265", "url": "https://glygen.org/publication/PubMed/33290265" } ] } ], "pathway": [ { "id": "hsa:729920", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729920", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5RJG7-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "Crppa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEPGPCSRPAEPGHCVSGPAGAGSAFPESPLSVAGAEPGNRPGTVAAVLPAGGCGERMGVRTPKQFCRVLERPLISYTLQAMERVCWIKDIVVTVTGENMEAMRSIIQRYGHKRISLAEAGATRHRSIFNGLKALAEDQPDCKLTKPEVVIIHDAVRPFVEEDILLRVVLAAKEHGAAGAIRPLVSTVISPSADGHLDHSLDRAKHRASEMPQAFLFDVIYEAYQQCSDFDLEFGTECLQLALKYCHRKAKLVEGPPALWKVTYKQDLCAAEAMIKEKISQEICVVMNTKDEESVGHLLEEALRKELNCMKITSTVMDHIGGDIRNFIEQCYSFICVNVVSPDSQETRKLLRILEESSLPLLYPVVVVLVHCFDFTSVPLAQKMESLVWIRGLAKEVKERNILLSGLLLNYSQDEQKLQESLGQSAAIIAALVKERNSALVGQLLVA", "length": 447 }, "evidence": [ { "id": "45614", "url": "http://www.informatics.jax.org/homology/45614", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q5S6T3-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "Crppa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MESGPCSRPAEPRHCVSGRAGAGLAFPAFPLSAAGAEPGSRIGTVAAVLPAGGCGERMGVRTPKQFCRVLERPLISYTLQAMERVCWIKDIVVTVTGENMEAMRSIIQRYGHKRISLAEAGATRHRSIFNGLKALAEDQPGCELTRPEVVIIHDAVRPFVEEDILLRVVLAAKEHGAAGAIRPLVSTVVSPSADGHLDHSLDRAKHRASEMPQAFHFDVIYEAYQKCSDFDLEFGTECLQLALKYCHRKAKLVEGTPDLWKVTYKQDLCAAEAMIKEKISQEICVVVNTKDEESVGHLLEEVLRNELNCIKVTSTVLDRTSGDIENFIDQCYSFICVNVVSSESRETRKLLSILEESSLPLLYPVVVVLVHCFDFTVVPLAQKMENLVWIRELAKEAKGRNVLLSGVLLNHSQDEQKLQESLVQSAAIIAALVKERNSALVGQLLVA", "length": 447 }, "evidence": [ { "id": "45614", "url": "http://www.informatics.jax.org/homology/45614", "database": "MGI" }, { "id": "A4D126", "url": "https://omabrowser.org/oma/group/A4D126/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "" }, { "name": "isoprenoid biosynthetic process", "id": "GO:0008299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008299", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "22522420" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "D-ribitol-5-phosphate cytidylyltransferase activity", "id": "GO:0047349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047349", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "26687144" }, { "name": "cytidylyltransferase activity", "id": "GO:0070567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070567", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "pmid": "26687144" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 342, "end_pos": 344, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12456", "name": "", "equation": "CTP + D-ribitol 5-phosphate + H(+) = CDP-L-ribitol + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5S6T3-1", "A4D126-1", "Q5RJG7-1" ], "evidence": [ { "id": "12456", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12456" } ] }, { "id": "53612", "name": "", "equation": "CTP + D-ribulose 5-phosphate + H(+) = CDP-D-ribulose + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5S6T3-1", "A4D126-1", "Q5RJG7-1" ], "evidence": [ { "id": "53612", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53612" } ] }, { "id": "53872", "name": "", "equation": "CTP + D-ribose 5-phosphate + H(+) = CDP-D-ribose + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5S6T3-1", "A4D126-1", "Q5RJG7-1" ], "evidence": [ { "id": "53872", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53872" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A4D126", "gene_name": "CRPPA", "activity": [ { "ec_number": "2.7.7.40", "activity": "CTP + D-ribitol 5-phosphate = diphosphate + CDP-ribitol.", "evidence": [ { "id": "A4D126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4D126" } ] }, { "ec_number": "2.7.7.40", "activity": "", "evidence": [ { "id": "A4D126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4D126" } ] } ] }, { "uniprot_ac": "Q5RJG7", "gene_name": "Crppa", "activity": [ { "ec_number": "2.7.7.40", "activity": "CTP + D-ribitol 5-phosphate = diphosphate + CDP-ribitol.", "evidence": [ { "id": "Q5RJG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5RJG7" } ] }, { "ec_number": "2.7.7.40", "activity": "", "evidence": [ { "id": "Q5RJG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5RJG7" } ] } ] }, { "uniprot_ac": "Q5S6T3", "gene_name": "Crppa", "activity": [ { "ec_number": "2.7.7.40", "activity": "CTP + D-ribitol 5-phosphate = diphosphate + CDP-ribitol.", "evidence": [ { "id": "Q5S6T3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5S6T3" } ] }, { "ec_number": "2.7.7.40", "activity": "", "evidence": [ { "id": "Q5S6T3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5S6T3" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ] }