{ "uniprot_canonical_ac": "O76024-1", "uniprot_ac": "O76024", "uniprot_id": "WFS1_HUMAN", "mass": { "chemical_mass": 100292.0, "monoisotopic_mass": 100292.0 }, "refseq": { "ac": "NP_001139325", "name": "wolframin", "summary": "This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" }, "gene_names": [ { "name": "WFS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76024", "id": "O76024" }, { "name": "CTRCT41; WFRS; WFS; WFSL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325", "id": "NP_001139325" }, { "name": "WFS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325", "id": "NP_001139325" } ], "protein_names": [ { "name": "Wolframin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76024" }, { "name": "Wolfram syndrome 1 (wolframin)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325", "id": "NP_001139325" }, { "name": "wolframin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325", "id": "NP_001139325" } ], "function": [ { "annotation": "Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001139325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" }, { "database": "PubMed", "id": "37163979", "url": "https://glygen.org/publication/PubMed/37163979" } ] }, { "annotation": "Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively regulates the ER stress response and positively regulates the stability of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation through an unknown proteasome-independent mechanism (PubMed:23035048).", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024#function" }, { "database": "PubMed", "id": "16989814", "url": "https://glygen.org/publication/PubMed/16989814" }, { "database": "PubMed", "id": "23035048", "url": "https://glygen.org/publication/PubMed/23035048" } ] }, { "annotation": "Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001139325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" }, { "database": "PubMed", "id": "37440664", "url": "https://glygen.org/publication/PubMed/37440664" } ] }, { "annotation": "The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" }, { "database": "PubMed", "id": "37277527", "url": "https://glygen.org/publication/PubMed/37277527" } ] }, { "annotation": "The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" }, { "database": "PubMed", "id": "37859980", "url": "https://glygen.org/publication/PubMed/37859980" } ] }, { "annotation": "This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001139325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" } ] } ], "disease": [ { "disease_id": "DOID:0080584", "recommended_name": { "id": "DOID:0080584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080584", "name": "autosomal dominant Wolfram syndrome", "description": "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "Wolfram-like syndrome", "description": "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "Wolfram-like syndrome", "description": "" }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "WFSL", "description": "" }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "Wolfram-like syndrome, autosomal dominant", "description": "" }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation", "description": "" }, { "id": "MIM:614296", "resource": "MIM", "url": "https://www.omim.org/entry/614296", "name": "Wolfram-like syndrome autosomal dominant", "description": "Wolfram-like syndrome autosomal dominant" } ], "evidence": [ { "id": "614296", "database": "MIM", "url": "https://www.omim.org/entry/614296" } ] }, { "disease_id": "DOID:0110241", "recommended_name": { "id": "DOID:0110241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110241", "name": "cataract 41", "description": "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0110241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110241", "name": "CTRCT41", "description": "" }, { "id": "DOID:0110241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110241", "name": "congenital nuclear type cataract 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract 41", "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "CTRCT41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "WFS1 early-onset non-syndromic cataract", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract type 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "congenital nuclear type cataract 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "early-onset non-syndromic cataract caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract 41, congenital nuclear type", "description": "" }, { "id": "MIM:116400", "resource": "MIM", "url": "https://www.omim.org/entry/116400", "name": "Cataract 41", "description": "Cataract 41" } ], "evidence": [ { "id": "116400", "database": "MIM", "url": "https://www.omim.org/entry/116400" } ] }, { "disease_id": "DOID:0110584", "recommended_name": { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant nonsyndromic deafness 6", "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA14", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA38", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA6", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 14", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 38", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic hearing loss 6", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "WFS1 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness type 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 6/14/38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant type 6", "description": "" }, { "id": "MIM:600965", "resource": "MIM", "url": "https://www.omim.org/entry/600965", "name": "Deafness, autosomal dominant, 6", "description": "Deafness, autosomal dominant, 6" } ], "evidence": [ { "id": "600965", "database": "MIM", "url": "https://www.omim.org/entry/600965" } ] }, { "disease_id": "DOID:0110629", "recommended_name": { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "Wolfram syndrome 1", "description": "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1." }, "synonyms": [ { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "DIDMOAD", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "WFS1", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "diabetes mellitus AND insipidus with optic atrophy AND deafness", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1 Wolfram syndrome", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome type 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WOLFRAM syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wfs", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "diabetes insipidus and mellitus with optic atrophy and deafness", "description": "" }, { "id": "MIM:222300", "resource": "MIM", "url": "https://www.omim.org/entry/222300", "name": "Wolfram syndrome 1", "description": "Wolfram syndrome 1" } ], "evidence": [ { "id": "222300", "database": "MIM", "url": "https://www.omim.org/entry/222300" } ] } ], "snv": [ { "evidence": [ { "id": "rs1352361132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1352361132" }, { "id": "rs1352361132", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1352361132" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "4", "chr_pos": "6291989", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770713329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770713329" }, { "id": "rs770713329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770713329" }, { "id": "rs770713329", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770713329" }, { "id": "rs770713329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770713329#frequency_tab" }, { "id": "rs770713329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770713329" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 205, "end_pos": 205, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "4", "chr_pos": "6291349", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200095753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200095753" }, { "id": "rs200095753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200095753" }, { "id": "rs200095753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200095753#frequency_tab" }, { "id": "rs200095753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200095753" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 375, "end_pos": 375, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFR->NFS).", "chr_id": "4", "chr_pos": "6300918", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R375", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs863224269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs863224269" }, { "id": "rs863224269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs863224269#frequency_tab" }, { "id": "rs863224269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs863224269" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 398, "end_pos": 398, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFG->NFS).", "chr_id": "4", "chr_pos": "6300987", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G398", "disease": [ { "disease_id": "DOID:0110629", "recommended_name": { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "Wolfram syndrome 1", "description": "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1." }, "synonyms": [ { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "DIDMOAD", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "WFS1", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "diabetes mellitus AND insipidus with optic atrophy AND deafness", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1 Wolfram syndrome", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome type 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WOLFRAM syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wfs", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "diabetes insipidus and mellitus with optic atrophy and deafness", "description": "" }, { "id": "MIM:222300", "resource": "MIM", "url": "https://www.omim.org/entry/222300", "name": "Wolfram syndrome 1", "description": "Wolfram syndrome 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1207145721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207145721" }, { "id": "rs1207145721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1207145721#frequency_tab" }, { "id": "rs1207145721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207145721" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 416, "end_pos": 416, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "chr_id": "4", "chr_pos": "6301042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477447848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477447848" }, { "id": "rs1477447848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477447848#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 479, "end_pos": 479, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWP->NWS).", "chr_id": "4", "chr_pos": "6301230", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1468213280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468213280" }, { "id": "rs1468213280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468213280" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 617, "end_pos": 617, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "4", "chr_pos": "6301609", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1374507076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374507076" }, { "id": "rs1374507076", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1374507076" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 652, "end_pos": 652, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YRS->NRS).", "chr_id": "4", "chr_pos": "6301998", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y652", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1578611648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1578611648" }, { "id": "rs1578611648", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1578611648" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 661, "end_pos": 661, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "4", "chr_pos": "6301776", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N661", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376341411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376341411" }, { "id": "rs376341411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376341411" }, { "id": "rs376341411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376341411#frequency_tab" }, { "id": "rs376341411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376341411" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 662, "end_pos": 662, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NPT).", "chr_id": "4", "chr_pos": "6301779", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S662", "disease": [ { "disease_id": "DOID:0110584", "recommended_name": { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant nonsyndromic deafness 6", "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA14", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA38", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA6", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 14", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 38", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic hearing loss 6", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "WFS1 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness type 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 6/14/38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant type 6", "description": "" }, { "id": "MIM:600965", "resource": "MIM", "url": "https://www.omim.org/entry/600965", "name": "Deafness, autosomal dominant, 6", "description": "Deafness, autosomal dominant, 6" } ] }, { "disease_id": "DOID:0110241", "recommended_name": { "id": "DOID:0110241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110241", "name": "cataract 41", "description": "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0110241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110241", "name": "CTRCT41", "description": "" }, { "id": "DOID:0110241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110241", "name": "congenital nuclear type cataract 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract 41", "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "CTRCT41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "WFS1 early-onset non-syndromic cataract", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract type 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "congenital nuclear type cataract 41", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "early-onset non-syndromic cataract caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0007287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007287", "name": "cataract 41, congenital nuclear type", "description": "" }, { "id": "MIM:116400", "resource": "MIM", "url": "https://www.omim.org/entry/116400", "name": "Cataract 41", "description": "Cataract 41" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ] }, { "disease_id": "DOID:0110629", "recommended_name": { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "Wolfram syndrome 1", "description": "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1." }, "synonyms": [ { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "DIDMOAD", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "WFS1", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "diabetes mellitus AND insipidus with optic atrophy AND deafness", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1 Wolfram syndrome", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome type 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WOLFRAM syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wfs", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "diabetes insipidus and mellitus with optic atrophy and deafness", "description": "" }, { "id": "MIM:222300", "resource": "MIM", "url": "https://www.omim.org/entry/222300", "name": "Wolfram syndrome 1", "description": "Wolfram syndrome 1" } ] }, { "disease_id": "DOID:0080584", "recommended_name": { "id": "DOID:0080584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080584", "name": "autosomal dominant Wolfram syndrome", "description": "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "Wolfram-like syndrome", "description": "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "Wolfram-like syndrome", "description": "" }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "WFSL", "description": "" }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "Wolfram-like syndrome, autosomal dominant", "description": "" }, { "id": "MONDO:0013673", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013673", "name": "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation", "description": "" }, { "id": "MIM:614296", "resource": "MIM", "url": "https://www.omim.org/entry/614296", "name": "Wolfram-like syndrome autosomal dominant", "description": "Wolfram-like syndrome autosomal dominant" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1241427653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241427653" }, { "id": "rs1241427653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1241427653" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 663, "end_pos": 663, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "4", "chr_pos": "6301782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T663", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200663929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200663929" }, { "id": "rs200663929", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200663929" }, { "id": "rs200663929", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200663929" }, { "id": "rs200663929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200663929#frequency_tab" }, { "id": "rs200663929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200663929" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 679, "end_pos": 679, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KET->NET).", "chr_id": "4", "chr_pos": "6302081", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "K679", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412819148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412819148" }, { "id": "rs1412819148", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412819148" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 684, "end_pos": 684, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "4", "chr_pos": "6301845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1405752612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405752612" }, { "id": "rs1405752612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1405752612#frequency_tab" }, { "id": "rs1405752612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405752612" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 713, "end_pos": 713, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "4", "chr_pos": "6301932", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D713", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs28937893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937893" }, { "id": "rs28937893", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937893" }, { "id": "rs28937893", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28937893" }, { "id": "11709538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11709538" }, { "id": "17492394", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17492394" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 716, "end_pos": 716, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "4", "chr_pos": "6301941", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A716", "disease": [ { "disease_id": "DOID:0110584", "recommended_name": { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant nonsyndromic deafness 6", "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA14", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA38", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "DFNA6", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 14", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 38", "description": "" }, { "id": "DOID:0110584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110584", "name": "autosomal dominant deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic hearing loss 6", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "DFNA6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "WFS1 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "autosomal dominant nonsyndromic deafness type 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 14", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 6", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant 6/14/38", "description": "" }, { "id": "MONDO:0010963", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010963", "name": "deafness, autosomal dominant type 6", "description": "" }, { "id": "MIM:600965", "resource": "MIM", "url": "https://www.omim.org/entry/600965", "name": "Deafness, autosomal dominant, 6", "description": "Deafness, autosomal dominant, 6" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1373506779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373506779" }, { "id": "rs1373506779", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373506779" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 746, "end_pos": 746, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->KTS).", "chr_id": "4", "chr_pos": "6302033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1578612366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1578612366" }, { "id": "rs1578612366", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1578612366" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 747, "end_pos": 747, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NPS).", "chr_id": "4", "chr_pos": "6302034", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T747", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441502005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441502005" }, { "id": "rs1441502005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1441502005#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 748, "end_pos": 748, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTF).", "chr_id": "4", "chr_pos": "6302038", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S748", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776324301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776324301" }, { "id": "rs776324301", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776324301" }, { "id": "rs776324301", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776324301" }, { "id": "rs776324301", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776324301#frequency_tab" }, { "id": "rs776324301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776324301" }, { "id": "rs1553879004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553879004" }, { "id": "rs1553879004", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553879004" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 797, "end_pos": 797, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "4", "chr_pos": "6302433", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D797", "disease": [ { "disease_id": "DOID:0110629", "recommended_name": { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "Wolfram syndrome 1", "description": "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1." }, "synonyms": [ { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "DIDMOAD", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "WFS1", "description": "" }, { "id": "DOID:0110629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110629", "name": "diabetes mellitus AND insipidus with optic atrophy AND deafness", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WFS1 Wolfram syndrome", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome caused by mutation in WFS1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wolfram syndrome type 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "WOLFRAM syndrome 1", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "Wfs", "description": "" }, { "id": "MONDO:0009101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009101", "name": "diabetes insipidus and mellitus with optic atrophy and deafness", "description": "" }, { "id": "MIM:222300", "resource": "MIM", "url": "https://www.omim.org/entry/222300", "name": "Wolfram syndrome 1", "description": "Wolfram syndrome 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109501" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76024" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": 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"" }, { "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", 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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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"" }, { "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76024" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSELWGAHAVFSHASAKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA", "length": 902, "header": "tr|A0A669KAX3-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6302465, "end_pos": 6277456, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673991.1", "url": "https://www.ensembl.org/id/ENST00000673991.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501033.1", "url": "https://www.ensembl.org/id/ENSP00000501033.1" } ] } }, { "isoform_ac": "A0A669KB26-1", "url": "", "sequence": { "sequence": "MDSNTAPLGPSCPQPPPAPQPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPK", "length": 148, "header": "tr|A0A669KB26-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6291306, "end_pos": 6277456, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674051.1", "url": "https://www.ensembl.org/id/ENST00000674051.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501083.1", "url": "https://www.ensembl.org/id/ENSP00000501083.1" } ] } }, { "isoform_ac": "A0A669KBF0-1", "url": "", "sequence": { "sequence": "TRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKQPHHRLLRLLHPAGHLLPVLHLHGDLHPQGVPGQQGLGELPHPHRPAAALRAQPGCGAGRGQLRLEPPGALCPFPALCLLRHLLLPHRQQGLHPLLGAGCHHRLLYRDQLPEPEHPCRALHAQGPGHRGHRRPAIAAALHALELALPEGPWPDLHHRACRPPGRPQRQRPVPALCLPALSLLPHGTAEEFQGHLLLPCALPGVLHVV", "length": 427, "header": "tr|A0A669KBF0-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6301417, "end_pos": 6277657, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673642.1", "url": "https://www.ensembl.org/id/ENST00000673642.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501242.1", "url": "https://www.ensembl.org/id/ENSP00000501242.1" } ] } }, { "isoform_ac": "A0A804HIL0-1", "url": "", "sequence": { "sequence": "MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGGSV", "length": 157, "header": "tr|A0A804HIL0-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6289142, "end_pos": 6277456, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684054.1", "url": "https://www.ensembl.org/id/ENST00000684054.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507120.1", "url": "https://www.ensembl.org/id/ENSP00000507120.1" } ] } }, { "isoform_ac": "A0A804HIL2-1", "url": "", "sequence": { "sequence": "XTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQMEGRSQAPCPSPCRSRGACWSAWSAASPRTTSRWMTLWRSLRSTPRASSPAACSCRTTKMMTSWRGRALRTCHCV", "length": 278, "header": "tr|A0A804HIL2-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6295185, "end_pos": 6277466, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683395.1", "url": "https://www.ensembl.org/id/ENST00000683395.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507124.1", "url": "https://www.ensembl.org/id/ENSP00000507124.1" } ] } }, { "isoform_ac": "A0A804HK77-1", "url": "", "sequence": { "sequence": "MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHGARIHPGHQPSLGASLPTGARTFP", "length": 234, "header": "tr|A0A804HK77-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6291438, "end_pos": 6277456, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684700.1", "url": "https://www.ensembl.org/id/ENST00000684700.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507806.1", "url": "https://www.ensembl.org/id/ENSP00000507806.1" } ] } }, { "isoform_ac": "A0A804HKM5-1", "url": "", "sequence": { "sequence": "MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTEYLLNQGVELGSSAAQPGRCCVLDYARISEGERAAAGPICSGFLLESPSAPCVLSSVVVEAGGETGETHGHRWHPRRLAEPVIDDGR", "length": 164, "header": "tr|A0A804HKM5-1|A0A804HKM5_HUMAN Computationally mapped isoform of Wolframin ER transmembrane glycoprotein OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=1 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6283052, "end_pos": 6277456, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682059.1", "url": "https://www.ensembl.org/id/ENST00000682059.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507988.1", "url": "https://www.ensembl.org/id/ENSP00000507988.1" } ] } }, { "isoform_ac": "H0Y9G5-1", "url": "", "sequence": { "sequence": "MEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA", "length": 807, "header": "tr|H0Y9G5-1|WFS1_HUMAN Computationally mapped isoform of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=2 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6302465, "end_pos": 6287110, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506362.2", "url": "https://www.ensembl.org/id/ENST00000506362.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000424103.2", "url": "https://www.ensembl.org/id/ENSP00000424103.2" } ] } }, { "isoform_ac": "O76024-1", "url": "", "sequence": { "sequence": "MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA", "length": 890, "header": "sp|O76024-1|WFS1_HUMAN Isoform 1 of Wolframin OS=Homo sapiens OX=9606 GN=WFS1 PE=1 SV=2 CANONICAL=O76024-1" }, "locus": { "chromosome": "4", "start_pos": 6302465, "end_pos": 6277456, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000226760.5", "url": "https://www.ensembl.org/id/ENST00000226760.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000226760.1", "url": "https://www.ensembl.org/id/ENSP00000226760.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 661, "start_aa": "Asn", "end_pos": 661, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn661", "evidence": [ { "id": "1903", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1903" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 661, "start_aa": "Asn", "end_pos": 661, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn661", "evidence": [ { "id": "1903", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1903" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 661, "start_aa": "Asn", "end_pos": 661, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn661", "evidence": [ { "id": "O76024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76024#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 746, "start_aa": "Asn", "end_pos": 746, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn746", "evidence": [ { "id": "1903", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1903" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 746, "start_aa": "Asn", "end_pos": 746, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn746", "evidence": [ { "id": "1903", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1903" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 746, "start_aa": "Asn", "end_pos": 746, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn746", "evidence": [ { "id": "O76024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76024#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O76024", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76024" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" } ], "site_lbl": "Ser157" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" }, { "database": "iPTMnet", "id": "O76024", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76024" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ], "site_lbl": "Thr30" }, { "start_pos": 32, "end_pos": 32, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" }, { "database": "iPTMnet", "id": "O76024", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76024" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser32" }, { "start_pos": 630, "end_pos": 630, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O76024", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76024" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ], "site_lbl": "Ser630" }, { "start_pos": 631, "end_pos": 631, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O76024", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76024" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ], "site_lbl": "Ser631" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10077652", "url": "https://glygen.org/publication/PubMed/10077652" } ] }, { "title": "The cleavage site specificity of human prostate specific antigen for insulin-like growth factor binding protein-3.", "journal": "FEBS letters", "date": "1999", "authors": "Okabe E, Kajihara J, Usami Y, Hirano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10218588", "url": "https://glygen.org/publication/PubMed/10218588" } ] }, { "title": "Inflammation-related neutrophil proteases, cathepsin G and elastase, function as insulin-like growth factor binding protein proteases.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1999", "authors": "Gibson TL, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10512690", "url": "https://glygen.org/publication/PubMed/10512690" } ] }, { "title": "Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.", "journal": "Am. J. Hum. 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"https://www.ncbi.nlm.nih.gov/protein/NP_001139325" } ], "reference": [ { "type": "PubMed", "id": "37440664", "url": "https://glygen.org/publication/PubMed/37440664" } ] }, { "title": "The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Hammad Maha M, Abu-Farha Mohamed, Hebbar Prashantha, Anoop Emil, Chandy Betty, Melhem Motasem, Channanath Arshad, Al-Mulla Fahd, Thanaraj Thangavel Alphonse, Abubaker Jehad", "evidence": [ { "database": "RefSeq", "id": "NP_001139325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139325" } ], "reference": [ { "type": "PubMed", "id": "37859980", "url": "https://glygen.org/publication/PubMed/37859980" } ] }, { "title": "Heparin, heparan sulfate, and dermatan sulfate regulate formation of the insulin-like growth factor-I and insulin-like growth factor-binding protein complexes.", "journal": "The Journal of biological chemistry", 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binding protein-3 protease.", "journal": "The Journal of endocrinology", "date": "1994", "authors": "Cohen P, Peehl DM, Graves HC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525824", "url": "https://glygen.org/publication/PubMed/7525824" } ] }, { "title": "Interactions between insulin-like growth factor-I (IGF-I) and the system of plasminogen activators and their inhibitors in the control of IGF-binding protein-3 production and proteolysis in human osteosarcoma cells.", "journal": "Endocrinology", "date": "1994", "authors": "Lalou C, Silve C, Rosato R, Segovia B, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7527330", "url": "https://glygen.org/publication/PubMed/7527330" } ] }, { "title": "Biochemical analysis of prostate specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7538844", "url": "https://glygen.org/publication/PubMed/7538844" } ] }, { "title": "Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1995", "authors": "Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, Muller J, Skakkebaek NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": 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"" }, { "name": "renal water homeostasis", "id": "GO:0003091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003091", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O76024", "url": "https://www.uniprot.org/uniprot/O76024" } ], "pmid": "" }, { "name": 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