{ "uniprot_canonical_ac": "O75072-1", "uniprot_ac": "O75072", "uniprot_id": "FKTN_HUMAN", "mass": { "chemical_mass": 53724.0, "monoisotopic_mass": 53724.0 }, "refseq": { "ac": "NP_001073270", "name": "ribitol-5-phosphate transferase FKTN isoform a", "summary": "The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" }, "gene_names": [ { "name": "FKTN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75072", "id": "O75072" }, { "name": "CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4; MDDGB4; MDDGC4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270", "id": "NP_001073270" }, { "name": "FCMD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75072", "id": "O75072" }, { "name": "FKTN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270", "id": "NP_001073270" } ], "protein_names": [ { "name": "Ribitol-5-phosphate transferase FKTN", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75072" }, { "name": "2.7.8.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75072" }, { "name": "Fukutin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75072" }, { "name": "Fukuyama type congenital muscular dystrophy protein; patient fukutin; ribitol-5-phosphate transferase; ribitol-5-phosphate transferase FKTN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270", "id": "NP_001073270" }, { "name": "Fukuyama-type congenital muscular dystrophy protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75072" }, { "name": "Ribitol-5-phosphate transferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75072" }, { "name": "ribitol-5-phosphate transferase FKTN isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270", "id": "NP_001073270" } ], "function": [ { "annotation": "Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine 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) (PubMed:26923585, PubMed:29477842, PubMed:27194101). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842, PubMed:27194101). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072#function" }, { "database": "PubMed", "id": "29477842", "url": "https://glygen.org/publication/PubMed/29477842" }, { "database": "PubMed", "id": "17034757", "url": "https://glygen.org/publication/PubMed/17034757" }, { "database": "PubMed", "id": "27194101", "url": "https://glygen.org/publication/PubMed/27194101" }, { "database": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" }, { "database": "PubMed", "id": "11115853", "url": "https://glygen.org/publication/PubMed/11115853" }, { "database": "PubMed", "id": "26923585", "url": "https://glygen.org/publication/PubMed/26923585" } ] }, { "annotation": "Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.", "evidence": [ { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" }, { "database": "PubMed", "id": "35843586", "url": "https://glygen.org/publication/PubMed/35843586" } ] }, { "annotation": "Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" }, { "database": "PubMed", "id": "34830034", "url": "https://glygen.org/publication/PubMed/34830034" } ] }, { "annotation": "Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function.", "evidence": [ { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" }, { "database": "PubMed", "id": "29477842", "url": "https://glygen.org/publication/PubMed/29477842" } ] }, { "annotation": "The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" } ] } ], "disease": [ { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "congenital muscular dystrophy, Fukuyama type", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "evidence": [ { "id": "0009678", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678" }, { "id": "253800", "database": "MIM", "url": "https://www.omim.org/entry/253800" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" } ] }, { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy, limb-girdle, type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, with mild or No proximal muscle weakness", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy, congenital, Fktn-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" } ] } ], "snv": [ { "evidence": [ { "id": "rs1231555305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231555305" }, { "id": "rs1231555305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231555305" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 38, "end_pos": 38, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "9", "chr_pos": "105596604", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752358445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752358445" }, { "id": "rs752358445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752358445" }, { "id": "rs752358445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752358445#frequency_tab" }, { "id": "rs752358445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752358445" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 424, "end_pos": 424, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYG->NYS).", "chr_id": "9", "chr_pos": "105635148", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75072", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75072" } ], "glycoeffect": [], "start_pos": 438, "end_pos": 438, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "105635191", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R438", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776639304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776639304" }, { "id": "rs776639304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776639304" }, { "id": "rs776639304", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776639304#frequency_tab" }, { "id": "rs776639304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776639304" }, { "id": "22941189", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22941189" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 7, "end_pos": 7, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKN->NKS).", "chr_id": "9", "chr_pos": "105617977", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N7", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy, limb-girdle, type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, with mild or No proximal muscle weakness", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "congenital muscular dystrophy, Fukuyama type", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "cerebroocular dysplasia-muscular dystrophy syndrome", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "cod-MD syndrome", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "hard syndrome", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "hydrocephalus, agyria, and retinal dysplasia", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "cerebroocular dysplasia-muscular dystrophy syndrome", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "cod-MD syndrome", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "hard syndrome", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "hydrocephalus, agyria, and retinal dysplasia", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy, congenital, Fktn-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1295912375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295912375" }, { "id": "rs1295912375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295912375" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 86, "end_pos": 86, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKN->NKT).", "chr_id": "9", "chr_pos": "105601236", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N86", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75072", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75072" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 94, "end_pos": 94, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTS->NTC).", "chr_id": "9", "chr_pos": "105601260", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S94", "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 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"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", 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"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": 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"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": "O75072", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75072" } ], "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": "" }, { 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG65", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG65", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG65-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG65-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG93", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG93", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG93-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG93-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGS8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGS8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGS8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGS8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGV4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGV4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHN1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHN1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3W5", "url": "https://www.uniprot.org/uniprot/H7C3W5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3W5-1", "url": "https://www.uniprot.org/uniprot/H7C3W5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I7HPB4", "url": "https://www.uniprot.org/uniprot/I7HPB4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I7HPB4-1", "url": "https://www.uniprot.org/uniprot/I7HPB4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75072-1", "url": "https://www.uniprot.org/uniprot/O75072-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75072-2", "url": "https://www.uniprot.org/uniprot/O75072-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "R4GMU0", "url": "https://www.uniprot.org/uniprot/R4GMU0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "R4GMU0-1", "url": "https://www.uniprot.org/uniprot/R4GMU0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY", "length": 461, "header": "sp|O75072-1|FKTN_HUMAN Isoform 1 of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=2 CANONICAL=O75072-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y4L5-1", "url": "", "sequence": { "sequence": "GFDSTQWK", "length": 8, "header": "tr|A0A2R8Y4L5-1|A0A2R8Y4L5_HUMAN Computationally mapped isoform of Fukutin OS=Homo sapiens OX=9606 GN=FKTN PE=4 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105598088, "end_pos": 105596637, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642952.1", "url": "https://www.ensembl.org/id/ENST00000642952.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493886.1", "url": "https://www.ensembl.org/id/ENSP00000493886.1" } ] } }, { "isoform_ac": "A0A2R8Y6X6-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWK", "length": 56, "header": "tr|A0A2R8Y6X6-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105598088, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642644.1", "url": "https://www.ensembl.org/id/ENST00000642644.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494674.1", "url": "https://www.ensembl.org/id/ENSP00000494674.1" } ] } }, { "isoform_ac": "A0A2R8Y768-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFNIQICQ", "length": 396, "header": "tr|A0A2R8Y768-1|A0A2R8Y768_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105623065, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642177.1", "url": "https://www.ensembl.org/id/ENST00000642177.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495864.1", "url": "https://www.ensembl.org/id/ENSP00000495864.1" } ] } }, { "isoform_ac": "A0A2R8Y7E3-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWNQLDTFPRSVNDCIDNNLEDVFRSIFHLILKMFIFLRRLLIESRDHMCYLIICIF", "length": 110, "header": "tr|A0A2R8Y7E3-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105601011, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642537.1", "url": "https://www.ensembl.org/id/ENST00000642537.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495945.1", "url": "https://www.ensembl.org/id/ENSP00000495945.1" } ] } }, { "isoform_ac": "A0A2R8YDW9-1", "url": "", "sequence": { "sequence": "XTGKKFKYESNKYLFIKHPNLPVIKVMNIITMPPECEVLNSTSHFLKMLPRFIWFASFLPILNQLVWVEARSLKGIFYHKTRSVISSKLPTIITFLARHSGSCL", "length": 104, "header": "tr|A0A2R8YDW9-1|A0A2R8YDW9_HUMAN Computationally mapped isoform of Fukutin OS=Homo sapiens OX=9606 GN=FKTN PE=4 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105624372, "end_pos": 105620044, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644273.1", "url": "https://www.ensembl.org/id/ENST00000644273.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495009.1", "url": "https://www.ensembl.org/id/ENSP00000495009.1" } ] } }, { "isoform_ac": "A0A6Q8PEY6-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWNQLDTFPRSVNDCIDNNLEDVFRSVQLKNLLC", "length": 87, "header": "tr|A0A6Q8PEY6-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105601169, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676371.1", "url": "https://www.ensembl.org/id/ENST00000676371.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501556.1", "url": "https://www.ensembl.org/id/ENSP00000501556.1" } ] } }, { "isoform_ac": "A0A6Q8PF14-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGPSPKILYIGRLAWEKTHHSEGSLLVK", "length": 450, "header": "tr|A0A6Q8PF14-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105652151, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676310.1", "url": "https://www.ensembl.org/id/ENST00000676310.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501585.1", "url": "https://www.ensembl.org/id/ENSP00000501585.1" } ] } }, { "isoform_ac": "A0A6Q8PG65-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYESNKYLFIKVLQK", "length": 405, "header": "tr|A0A6Q8PG65-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105620104, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675668.1", "url": "https://www.ensembl.org/id/ENST00000675668.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502113.1", "url": "https://www.ensembl.org/id/ENSP00000502113.1" } ] } }, { "isoform_ac": "A0A6Q8PG93-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYDDLEDDSLIVGEWKSLLWSPNWATV", "length": 448, "header": "tr|A0A6Q8PG93-1|A0A6Q8PG93_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105644777, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674633.1", "url": "https://www.ensembl.org/id/ENST00000674633.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502164.1", "url": "https://www.ensembl.org/id/ENSP00000502164.1" } ] } }, { "isoform_ac": "A0A6Q8PGS8-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWVCRINKKFLNYNVHLVHSFTP", "length": 76, "header": "tr|A0A6Q8PGS8-1|A0A6Q8PGS8_HUMAN Computationally mapped isoform of Fukutin OS=Homo sapiens OX=9606 GN=FKTN PE=4 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105596720, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674767.1", "url": "https://www.ensembl.org/id/ENST00000674767.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502426.1", "url": "https://www.ensembl.org/id/ENSP00000502426.1" } ] } }, { "isoform_ac": "A0A6Q8PGV4-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFNIQICQ", "length": 308, "header": "tr|A0A6Q8PGV4-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105623065, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675695.1", "url": "https://www.ensembl.org/id/ENST00000675695.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502460.1", "url": "https://www.ensembl.org/id/ENSP00000502460.1" } ] } }, { "isoform_ac": "A0A6Q8PHN1-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEGLTLSPRLECSGTILAHCSLDLSGSSDPPGSDPQVAGTTGRLVSDS", "length": 169, "header": "tr|A0A6Q8PHN1-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105604234, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675736.1", "url": "https://www.ensembl.org/id/ENST00000675736.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502809.1", "url": "https://www.ensembl.org/id/ENSP00000502809.1" } ] } }, { "isoform_ac": "H7C3W5-1", "url": "", "sequence": { "sequence": "XWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKEAESYILSMLFRTTFWSLADFPLTPENNSSLKNGNLNV", "length": 160, "header": "tr|H7C3W5-1|H7C3W5_HUMAN Computationally mapped isoform of Fukutin OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105636792, "end_pos": 105617959, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457847.1", "url": "https://www.ensembl.org/id/ENST00000457847.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414114.1", "url": "https://www.ensembl.org/id/ENSP00000414114.1" } ] } }, { "isoform_ac": "I7HPB4-1", "url": "", "sequence": { "sequence": "HYLSTKNGAGLSKSKGSRIGFDSTQWK", "length": 27, "header": "tr|I7HPB4-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=2 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105598088, "end_pos": 105575120, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374705.5", "url": "https://www.ensembl.org/id/ENST00000374705.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000363837.5", "url": "https://www.ensembl.org/id/ENSP00000363837.5" } ] } }, { "isoform_ac": "O75072-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY", "length": 461, "header": "sp|O75072-1|FKTN_HUMAN Isoform 1 of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=2 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105635261, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357998.10", "url": "https://www.ensembl.org/id/ENST00000357998.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000350687.6", "url": "https://www.ensembl.org/id/ENSP00000350687.6" } ] } }, { "isoform_ac": "O75072-2", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKNQQGA", "length": 430, "header": "sp|O75072-2|FKTN_HUMAN Isoform 2 of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=2 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105640120, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448551.6", "url": "https://www.ensembl.org/id/ENST00000448551.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399140.2", "url": "https://www.ensembl.org/id/ENSP00000399140.2" } ] } }, { "isoform_ac": "R4GMU0-1", "url": "", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWHISPYIENVHLS", "length": 67, "header": "tr|R4GMU0-1|FKTN_HUMAN Computationally mapped isoform of Ribitol-5-phosphate transferase FKTN OS=Homo sapiens OX=9606 GN=FKTN PE=1 SV=1 CANONICAL=O75072-1" }, "locus": { "chromosome": "9", "start_pos": 105600953, "end_pos": 105575033, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000602526.1", "url": "https://www.ensembl.org/id/ENST00000602526.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000473347.1", "url": "https://www.ensembl.org/id/ENSP00000473347.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 92, "start_aa": "Asn", "end_pos": 92, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn92", "evidence": [ { "id": "O75072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75072#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).", "journal": "Human molecular genetics", "date": "1999", "authors": "Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "10545611", "url": "https://glygen.org/publication/PubMed/10545611" } ] }, { "title": "Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.", "journal": "Am. J. Med. Genet.", "date": "2000", "authors": "Saito K, Osawa M, Wang Z P, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "10817652", "url": "https://glygen.org/publication/PubMed/10817652" } ] }, { "title": "Neuronal expression of the fukutin gene.", "journal": "Human molecular genetics", "date": "2000-12-12", "authors": "Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E, Fukayama M, Mizusawa H, Takashima S, Sakakihara Y, Nakamura Y, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "11115853", "url": "https://glygen.org/publication/PubMed/11115853" } ] }, { "title": "Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.", "journal": "FEBS Lett.", "date": "2001", "authors": "Kobayashi K, Sasaki J, Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "11165248", "url": "https://glygen.org/publication/PubMed/11165248" } ] }, { "title": "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.", "journal": "Neurology", "date": "2001", "authors": "Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "11445638", "url": "https://glygen.org/publication/PubMed/11445638" } ] }, { "title": "A new mutation of the fukutin gene in a non-Japanese patient.", "journal": "Ann. Neurol.", "date": "2003", "authors": "Silan Fatma, Yoshioka Mieko, Kobayashi Kazuhiro, Simsek Enver, Tunc Murat, Alper Murat, Cam Meryem, Guven Aysel, Fukuda Yoji, Kinoshita Moritoshi, Kocabay Kenan, Toda Tatsushi", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "12601708", "url": "https://glygen.org/publication/PubMed/12601708" } ] }, { "title": "A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.", "journal": "J. Med. Genet.", "date": "2003", "authors": "de Bernab\u00e9 D Beltr\u00e1n-Valero, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns W B, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner H G", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "14627679", "url": "https://glygen.org/publication/PubMed/14627679" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wang F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "17034757", "url": "https://glygen.org/publication/PubMed/17034757" } ] }, { "title": "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.", "journal": "Annals of neurology", "date": "2006", "authors": "Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "17036286", "url": "https://glygen.org/publication/PubMed/17036286" } ] }, { "title": "Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.", "journal": "Annals of neurology", "date": "2006", "authors": "Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "17044012", "url": "https://glygen.org/publication/PubMed/17044012" } ] }, { "title": "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.", "journal": "Clinical genetics", "date": "2008", "authors": "Cotarelo RP, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "18177472", "url": "https://glygen.org/publication/PubMed/18177472" } ] }, { "title": "Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.", "journal": "Neuromuscular disorders : NMD", "date": "2009", "authors": "Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "19179078", "url": "https://glygen.org/publication/PubMed/19179078" } ] }, { "title": "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.", "journal": "Neurology", "date": "2009", "authors": "Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "19299310", "url": "https://glygen.org/publication/PubMed/19299310" } ] }, { "title": "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.", "journal": "Neuromuscular disorders : NMD", "date": "2009", "authors": "Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "19342235", "url": "https://glygen.org/publication/PubMed/19342235" } ] }, { "title": "Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer.", "journal": "Nature genetics", "date": "2012", "authors": "Rudin CM, Durinck S, Stawiski EW, Poirier JT, Modrusan Z, Shames DS, Bergbower EA, Guan Y, Shin J, Guillory J, Rivers CS, Foo CK, Bhatt D, Stinson J, Gnad F, Haverty PM, Gentleman R, Chaudhuri S, Janakiraman V, Jaiswal BS, Parikh C, Yuan W, Zhang Z, Koeppen H, Wu TD, Stern HM, Yauch RL, Huffman KE, Paskulin DD, Illei PB, Varella-Garcia M, Gazdar AF, de Sauvage FJ, Bourgon R, Minna JD, Brock MV, Seshagiri S", "evidence": [ { "database": "dbSNP", "id": "rs776639304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776639304" } ], "reference": [ { "type": "PubMed", "id": "22941189", "url": "https://glygen.org/publication/PubMed/22941189" } ] }, { "title": "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2012", "authors": "Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "22958903", "url": "https://glygen.org/publication/PubMed/22958903" } ] }, { "title": "Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.", "journal": "Gene", "date": "2014", "authors": "Ismail Samira, Schaffer Ashleigh E, Rosti Rasim O, Gleeson Joseph G, Zaki Maha S", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "24530477", "url": "https://glygen.org/publication/PubMed/24530477" } ] }, { "title": "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.", "journal": "eLife", "date": "2014", "authors": "Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltran Valero de Bernabe D, Yu L, Wright KM, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" } ] }, { "title": "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.", "journal": "Cell reports", "date": "2016", "authors": "Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "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": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "27194101", "url": "https://glygen.org/publication/PubMed/27194101" } ] }, { "title": "Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.", "journal": "Mol. Vis.", "date": "2018", "authors": "Haro C, Uribe ML, Quereda C, Cruces J, Martin-Nieto J", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "29416295", "url": "https://glygen.org/publication/PubMed/29416295" } ] }, { "title": "Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.", "journal": "Biochemical and biophysical research communications", "date": "2018", "authors": "Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, Kanagawa M, Endo T, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" }, { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" } ], "reference": [ { "type": "PubMed", "id": "29477842", "url": "https://glygen.org/publication/PubMed/29477842" } ] }, { "title": "Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Okamura Y, Yamamoto T, Tsukui R, Kato Y, Shibata N", "evidence": [ { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" } ], "reference": [ { "type": "PubMed", "id": "34830034", "url": "https://glygen.org/publication/PubMed/34830034" } ] }, { "title": "Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.", "journal": "The journal of obstetrics and gynaecology research", "date": "2022-10", "authors": "Li Meng, Fu Huayu, Li Jiao, Meng Dahua, Zhang Qiang, Fei Dongmei", "evidence": [ { "database": "RefSeq", "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270" } ], "reference": [ { "type": "PubMed", "id": "35843586", "url": "https://glygen.org/publication/PubMed/35843586" } ] }, { "title": "An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.", "journal": "Nature", "date": "1998", "authors": "Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "reference": [ { "type": "PubMed", "id": "9690476", "url": "https://glygen.org/publication/PubMed/9690476" } ] } ], "pathway": [ { "id": "hsa:2218", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2218", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZI33-1", "protein_name": "Ribitol-5-phosphate transferase", "gene_name": "Fktn", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSRVNKNVVLALLTLMSCAFLLFQLYYYKHYLSARNGTGSSKSKGNRVGFDSTQWRAVKKFIMLTSSQNVPVFLIDPWILESINKNFEQVKNASQGSASECRFFCVPRDFTAFALQYHLWKNEDGWFQMAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYVCKLATHAIHLVVFHERSGNYLWHGHLRLKGHMDRKFVPFRRLQFGRYPGAFDRPELQQVTVDGLDMLIPKDPGRFLEEVPHSRFIECRYKEARAFLQQYVDDNTVDAMAFRKRAKELLQLAAKTLKALGVPFWLSSGTCLGWYRQCSIIPYSKDVDLGIFIQDYKPDIVLAFQDAGLPLKHKFGKVEDSLELSFQGQADVKLDIFFFYEETDHMWNGGTQARTGKKFKYLFPKFTLCWTEFVDIKVHVPCETVDYIEANYGKAWKIPVKTWDWKSSPPNVQPNGVWPISEWDEVIQLY", "length": 461 }, "evidence": [ { "id": "45922785", "url": "http://www.informatics.jax.org/homology/45922785", "database": "MGI" }, { "id": "O75072", "url": "https://omabrowser.org/oma/group/O75072/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8R507-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "Fktn", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSARNGPGSSKSKGNRVGFDSTQWRAVKKFIMLTSSQNVPVFLIDPWILESINKNFEQVKNASQGPASECRFFCVPRDFTAFALQYHLWKNEDGWFRIAENMGFQCLKTESKDPRLDGIDSLSGTEIPLHYVCKLTTHAIHLVVFHERSGNYLWHGHLRLKGHMDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLDMLIPKDPGRFLEEVPHSRFIECRYKEARAFLQQYIDDNTVDAMVFRKRAKELLQLAAKTLKDLGVPFWLSSGTCLGWYRQCGIIPYSKDVDLGIFIQDYKPDIILAFQEAGLPLKHKFGKVEDSLELSFQGKNDVKLDIFFFYEEADHLWNGGTQARTGKKFKYLFPKFTLCWTEFVDIKVHVPCETVDYIEANYGKTWKIPIKTWDWKSSPPNVQPNGIWPISEWDEVIQLY", "length": 461 }, "evidence": [ { "id": "45922785", "url": "http://www.informatics.jax.org/homology/45922785", "database": "MGI" }, { "id": "O75072", "url": "https://omabrowser.org/oma/group/O75072/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "glycoprotein metabolic process", "id": "GO:0009100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009100", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "regulation of protein glycosylation", "id": "GO:0060049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060049", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "phosphotransferase activity, for other substituted phosphate groups", "id": "GO:0016780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016780", "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprot/O75072" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 92, "end_pos": 94, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "36551", "name": "", "equation": "3-O-[beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + CDP-L-ribitol = 3-O-[Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + CMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75072-1", "Q8R507-1" ], "evidence": [ { "id": "36551", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36551" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O75072", "gene_name": "FKTN", "activity": [ { "ec_number": "2.7.8.-", "activity": "", "evidence": [ { "id": "O75072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75072" } ] } ] }, { "uniprot_ac": "Q8R507", "gene_name": "Fktn", "activity": [ { "ec_number": "2.7.8.-", "activity": "", "evidence": [ { "id": "Q8R507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R507" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 92 ], "o_linked_sites": [], "snv_sites": [ 7, 38, 86, 94, 424, 438 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 92, "end_pos": 94 } ] }, "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": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }