{ "uniprot_canonical_ac": "O60500-1", "uniprot_ac": "O60500", "uniprot_id": "NPHN_HUMAN", "mass": { "chemical_mass": 134742.0, "monoisotopic_mass": 134742.0 }, "refseq": { "ac": "NP_004637", "name": "nephrin precursor", "summary": "This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" }, "gene_names": [ { "name": "NPHS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60500", "id": "O60500" }, { "name": "CNF; nephrin; NPHN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637", "id": "NP_004637" }, { "name": "NPHN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60500", "id": "O60500" }, { "name": "NPHS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637", "id": "NP_004637" } ], "protein_names": [ { "name": "Nephrin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60500" }, { "name": "Renal glomerulus-specific cell adhesion receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60500" }, { "name": "nephrin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637", "id": "NP_004637" }, { "name": "renal glomerulus-specific cell adhesion receptor; nephrosis 1, congenital, Finnish type (nephrin); NPHS1, nephrin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637", "id": "NP_004637" } ], "function": [ { "annotation": "Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" }, { "database": "PubMed", "id": "37495741", "url": "https://glygen.org/publication/PubMed/37495741" } ] }, { "annotation": "Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" }, { "database": "PubMed", "id": "35946274", "url": "https://glygen.org/publication/PubMed/35946274" } ] }, { "annotation": "Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCdelta Activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" }, { "database": "PubMed", "id": "36834691", "url": "https://glygen.org/publication/PubMed/36834691" } ] }, { "annotation": "Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure.", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" }, { "database": "PubMed", "id": "35747929", "url": "https://glygen.org/publication/PubMed/35747929" } ] }, { "annotation": "Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500#function" }, { "database": "UniProtKB", "id": "Q9QZS7", "url": "https://www.uniprot.org/uniprot/Q9QZS7#function" }, { "database": "UniProtKB", "id": "Q9R044", "url": "https://www.uniprot.org/uniprot/Q9R044#function" } ] }, { "annotation": "This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" } ] } ], "disease": [ { "disease_id": "DOID:0080390", "recommended_name": { "id": "DOID:0080390", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080390", "name": "nephrotic syndrome type 1", "description": "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13." }, "synonyms": [ { "id": "DOID:0080390", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080390", "name": "Finnish congenital nephrosis", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "Finnish congenital nephrosis", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome - Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome - NPHS1 associated", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "CnF", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "NPHS1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome 1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis 1, congenital, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis, congenital", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome, congenital", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome, type 1", "description": "" }, { "id": "MIM:256300", "resource": "MIM", "url": "https://www.omim.org/entry/256300", "name": "Nephrotic syndrome 1", "description": "Nephrotic syndrome 1" } ], "evidence": [ { "id": "256300", "database": "MIM", "url": "https://www.omim.org/entry/256300" } ] }, { "disease_id": "DOID:2590", "recommended_name": { "id": "DOID:2590", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2590", "name": "familial nephrotic syndrome", "description": "A nephrotic syndrome that has_material_basis_in genetic mutations." }, "synonyms": [ { "id": "DOID:2590", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2590", "name": "Congenital nephrotic syndrome", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "Finnish congenital nephrosis", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome - Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome - NPHS1 associated", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "CnF", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "NPHS1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome 1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis 1, congenital, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis, congenital", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome, congenital", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome, type 1", "description": "" }, { "id": "MIM:256300", "resource": "MIM", "url": "https://www.omim.org/entry/256300", "name": "Nephrotic syndrome 1", "description": "Nephrotic syndrome 1" } ], "evidence": [ { "id": "256300", "database": "MIM", "url": "https://www.omim.org/entry/256300" } ] } ], "snv": [ { "evidence": [ { "id": "O60500", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60500" } ], "glycoeffect": [], "start_pos": 1092, "end_pos": 1092, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35831655", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1092", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60500", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60500" } ], "glycoeffect": [], "start_pos": 813, "end_pos": 813, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35842448", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A813", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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"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": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60500", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60500" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60500", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60500" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"2875972at2759", "url": "http://www.orthodb.org/?query=2875972at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11640", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11640", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11640:SF136", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11640:SF136", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4ZRT", "url": "https://www.rcsb.org/structure/4ZRT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00041", "url": "http://pfam.xfam.org/family/PF00041", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { 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"length": 1241, "header": "sp|O60500-1|NPHN_HUMAN Isoform 1 of Nephrin OS=Homo sapiens OX=9606 GN=NPHS1 PE=1 SV=1 CANONICAL=O60500-1" }, "isoforms": [ { "isoform_ac": "O60500-1", "url": "", "sequence": { "sequence": "MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARSVLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAFSEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLAVQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFKGSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGEDEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQVEHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVHSSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQLPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASCVGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYRSLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGPWDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV", "length": 1241, "header": "sp|O60500-1|NPHN_HUMAN Isoform 1 of Nephrin OS=Homo sapiens OX=9606 GN=NPHS1 PE=1 SV=1 CANONICAL=O60500-1" }, "locus": { "chromosome": "19", "start_pos": 35851837, "end_pos": 35826517, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378910.10", "url": "https://www.ensembl.org/id/ENST00000378910.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000368190.4", "url": "https://www.ensembl.org/id/ENSP00000368190.4" } ] } }, { "isoform_ac": "O60500-2", "url": "", "sequence": { "sequence": "MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARSVLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAFSEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLAVQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFKGSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGEDEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQVEHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVHSSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQLPITTPGLHQPSGEPEDQLPTEPPSGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYRSLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGPWDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV", "length": 1201, "header": "sp|O60500-2|NPHN_HUMAN Isoform 2 of Nephrin OS=Homo sapiens OX=9606 GN=NPHS1 PE=1 SV=1 CANONICAL=O60500-1" }, "locus": { "chromosome": "19", "start_pos": 35851837, "end_pos": 35826517, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000353632.6", "url": "https://www.ensembl.org/id/ENST00000353632.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000343634.5", "url": "https://www.ensembl.org/id/ENSP00000343634.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 356, "start_aa": "Asn", "end_pos": 356, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn356", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 401, "start_aa": "Asn", "end_pos": 401, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn401", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 40, "start_aa": "Asn", "end_pos": 40, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn40", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 553, "start_aa": "Asn", "end_pos": 553, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn553", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 564, "start_aa": "Asn", "end_pos": 564, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn564", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 577, "start_aa": "Asn", "end_pos": 577, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn577", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 680, "start_aa": "Asn", "end_pos": 680, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn680", "evidence": [ { "id": "O60500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60500#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 708, 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U.S.A.", "date": "1999", "authors": "Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestila M, Jalanko H, Holmberg C, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" }, { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "10393930", "url": "https://glygen.org/publication/PubMed/10393930" } ] }, { "title": "Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "1999", "authors": "Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "10541305", "url": "https://glygen.org/publication/PubMed/10541305" } ] }, { "title": "Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney.", "journal": "Am. J. Pathol.", "date": "1999", "authors": "Holthofer H, Ahola H, Solin ML, Wang S, Palmen T, Luimula P, Miettinen A, Kerjaschki D", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "10550324", "url": "https://glygen.org/publication/PubMed/10550324" } ] }, { "title": "Gastric hyperplasia in mice lacking the putative Cdc42 effector IQGAP1.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Li S, Wang Q, Chakladar A, Bronson RT, Bernards A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "10611248", "url": "https://glygen.org/publication/PubMed/10611248" } ] }, { "title": "Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.", "journal": "Kidney international", "date": "2000", "authors": "Aya K, Tanaka H, Seino Y", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "10652016", "url": "https://glygen.org/publication/PubMed/10652016" } ] }, { "title": "Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.", "journal": "Human mutation", "date": "2001", "authors": "Beltcheva O, Martin P, Lenkkeri U, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "11317351", "url": "https://glygen.org/publication/PubMed/11317351" } ] }, { "title": "Nck and phosphatidylinositol 4,5-bisphosphate synergistically activate actin polymerization through the N-WASP-Arp2/3 pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Rohatgi R, Nollau P, Ho HY, Kirschner MW, Mayer BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "11340081", "url": "https://glygen.org/publication/PubMed/11340081" } ] }, { "title": "Interaction with podocin facilitates nephrin signaling.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Huber TB, Kottgen M, Schilling B, Walz G, Benzing T", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" }, { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "11562357", "url": "https://glygen.org/publication/PubMed/11562357" } ] }, { "title": "Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.", "journal": "Human molecular genetics", "date": "2001", "authors": "Liu L, Done SC, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "11726550", "url": "https://glygen.org/publication/PubMed/11726550" } ] }, { "title": "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "11733557", "url": "https://glygen.org/publication/PubMed/11733557" } ] }, { "title": "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Gerke P, Huber TB, Sellin L, Benzing T, Walz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "12660326", "url": 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"url": "https://glygen.org/publication/PubMed/12846735" } ] }, { "title": "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "12865409", "url": "https://glygen.org/publication/PubMed/12865409" } ] }, { "title": "Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.", "journal": "Human molecular genetics", "date": "2003", "authors": "Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzing T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": 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"Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15331416", "url": "https://glygen.org/publication/PubMed/15331416" } ] }, { "title": "Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.", "journal": "The Journal of clinical investigation", "date": "2004", "authors": "Wartiovaara J, Ofverstedt LG, Khoshnoodi J, Zhang J, Makela E, Sandin S, Ruotsalainen V, Cheng RH, Jalanko H, Skoglund U, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15545998", "url": "https://glygen.org/publication/PubMed/15545998" } ] }, { "title": "SRC-family kinase Fyn phosphorylates the cytoplasmic domain of nephrin and modulates its interaction with podocin.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2004", "authors": "Li H, Lemay S, Aoudjit L, Kawachi H, Takano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15579503", "url": "https://glygen.org/publication/PubMed/15579503" } ] }, { "title": "Characterization of the interactions of the nephrin intracellular domain.", "journal": "The FEBS journal", "date": "2005", "authors": "Liu XL, Kilpelainen P, Hellman U, Sun Y, Wartiovaara J, Morgunova E, Pikkarainen T, Yan K, Jonsson AP, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15634346", "url": "https://glygen.org/publication/PubMed/15634346" } ] }, { "title": "NEPH2 is located at the glomerular slit diaphragm, interacts with nephrin and is cleaved from podocytes by metalloproteinases.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2005", "authors": "Gerke P, Sellin L, Kretz O, Petraschka D, Zentgraf H, Benzing T, Walz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15843475", "url": "https://glygen.org/publication/PubMed/15843475" } ] }, { "title": "Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Lehtonen S, Ryan JJ, Kudlicka K, Iino N, Zhou H, Farquhar MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15994232", "url": "https://glygen.org/publication/PubMed/15994232" } ] }, { "title": "Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.", "journal": "Nature", "date": "2006", "authors": "Jones N, Blasutig IM, Eremina V, Ruston JM, Bladt F, Li H, Huang H, Larose L, Li SS, Takano T, Quaggin SE, Pawson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "16525419", "url": "https://glygen.org/publication/PubMed/16525419" } ] }, { "title": "Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization.", "journal": "The Journal of clinical investigation", "date": "2006", "authors": "Verma R, Kovari I, Soofi A, Nihalani D, Patrie K, Holzman LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "16543952", "url": 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"title": "A familial childhood-onset relapsing nephrotic syndrome.", "journal": "Kidney international", "date": "2007", "authors": "Kitamura A, Tsukaguchi H, Hiramoto R, Shono A, Doi T, Kagami S, Iijima K", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "17290294", "url": "https://glygen.org/publication/PubMed/17290294" } ] }, { "title": "The nephrin-based slit diaphragm: new insight into the signalling platform identifies targets for therapy.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2007", "authors": "Aaltonen P, Holthofer H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "17893108", "url": 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"title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" }, { "database": "iPTMnet", "id": "O60500-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60500-1" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] }, { "title": "Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2008", "authors": "Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "18503012", "url": "https://glygen.org/publication/PubMed/18503012" } ] }, { "title": "Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2008", "authors": "Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tete MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "18614772", "url": "https://glygen.org/publication/PubMed/18614772" } ] }, { "title": "Phosphorylation of Nephrin Triggers Ca2+ Signaling by Recruitment and Activation of Phospholipase C-{gamma}1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Harita Y, Kurihara H, Kosako H, Tezuka T, Sekine T, Igarashi T, Ohsawa I, Ohta S, Hattori S", "evidence": [ { "database": "iPTMnet", "id": "O60500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60500" } ], "reference": [ { "type": "PubMed", "id": "19179337", "url": "https://glygen.org/publication/PubMed/19179337" } ] }, { "title": "Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.", "journal": "Hum. Genet.", "date": "2009", "authors": "Tikhomirov Eugeny, Voznesenskaya Tatjiana, Tsygin Alexey", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "19309778", "url": "https://glygen.org/publication/PubMed/19309778" } ] }, { "title": "Nck proteins maintain the adult glomerular filtration barrier.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2009", "authors": "Jones N, New LA, Fortino MA, Eremina V, Ruston J, Blasutig IM, Aoudjit L, Zou Y, Liu X, Yu GL, Takano T, Quaggin SE, Pawson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "19443634", "url": "https://glygen.org/publication/PubMed/19443634" } ] }, { "title": "Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2010", "authors": "Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "20172850", "url": "https://glygen.org/publication/PubMed/20172850" } ] }, { "title": "A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis.", "journal": "Human molecular genetics", "date": "2010", "authors": "Neumann-Haefelin E, Kramer-Zucker A, Slanchev K, Hartleben B, Noutsou F, Martin K, Wanner N, Ritter A, Godel M, Pagel P, Fu X, Muller A, Baumeister R, Walz G, Huber TB", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "20233749", "url": "https://glygen.org/publication/PubMed/20233749" } ] }, { "title": "Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.", "journal": "Clinical journal of the American Society of Nephrology : CJASN", "date": "2010", "authors": "Buscher AK, Kranz B, Buscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Broking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "20798252", "url": "https://glygen.org/publication/PubMed/20798252" } ] }, { "title": "PKC alpha mediates beta-arrestin2-dependent nephrin endocytosis in hyperglycemia.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Quack I, Woznowski M, Potthoff SA, Palmer R, Konigshausen E, Sivritas S, Schiffer M, Stegbauer J, Vonend O, Rump LC, Sellin L", "evidence": [ { "database": "iPTMnet", "id": "O60500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60500" } ], "reference": [ { "type": "PubMed", "id": "21321125", "url": "https://glygen.org/publication/PubMed/21321125" } ] }, { "title": "Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.", "journal": "Genetics and molecular research : GMR", "date": "2011", "authors": "Wu LQ, Hu JJ, Xue JJ, Liang DS", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "22009864", "url": "https://glygen.org/publication/PubMed/22009864" } ] }, { "title": "A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.", "journal": "Gene", "date": "2012", "authors": "Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "22565185", "url": "https://glygen.org/publication/PubMed/22565185" } ] }, { "title": "Dynamin-mediated Nephrin phosphorylation regulates glucose-stimulated insulin release in pancreatic beta cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Jeon J, Leibiger I, Moede T, Walter B, Faul C, Maiguel D, Villarreal R, Guzman J, Berggren PO, Mundel P, Ricordi C, Merscher-Gomez S, Fornoni A", "evidence": [ { "database": "iPTMnet", "id": "O60500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60500" } ], "reference": [ { "type": "PubMed", "id": "22718751", "url": "https://glygen.org/publication/PubMed/22718751" } ] }, { "title": "Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.", "journal": "Clinical nephrology", "date": "2012", "authors": "Buscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "22732337", "url": "https://glygen.org/publication/PubMed/22732337" } ] }, { "title": "A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.", "journal": "Journal of human genetics", "date": "2013-07", "authors": "Al-Hamed Mohamed H, Al-Sabban Essam, Al-Mojalli Hamad, Al-Harbi Naffaa, Faqeih Eissa, Al Shaya Hammad, Alhasan Khalid, Al-Hissi Safaa, Rajab Mohamed, Edwards Noel, Al-Abbad Abbas, Al-Hassoun Ibrahim, Sayer John A, Meyer Brian F", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "23595123", "url": "https://glygen.org/publication/PubMed/23595123" } ] }, { "title": "Phase transitions of multivalent proteins can promote clustering of membrane receptors.", "journal": "eLife", "date": "2014", "authors": "Banjade S, Rosen MK", "evidence": [ { "database": "iPTMnet", "id": "O60500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60500" } ], "reference": [ { "type": "PubMed", "id": "25321392", "url": "https://glygen.org/publication/PubMed/25321392" } ] }, { "title": "SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.", "journal": "Eur. J. Hum. Genet.", "date": "2015", "authors": "Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "25804400", "url": "https://glygen.org/publication/PubMed/25804400" } ] }, { "title": "NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.", "journal": "Nephrology (Carlton, Vic.)", "date": "2016", "authors": "Guaragna MS, Cleto TL, Souza ML, Lutaif AC, de Castro LC, Penido MG, Maciel-Guerra AT, Belangero VM, Guerra-Junior G, De Mello MP", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "26560236", "url": "https://glygen.org/publication/PubMed/26560236" } ] }, { "title": "C1-Ten is a PTPase of nephrin, regulating podocyte hypertrophy through mTORC1 activation.", "journal": "Scientific reports", "date": "2017", "authors": "Lee J, Koh A, Jeong H, Kim E, Ha TS, Saleem MA, Ryu SH", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "28955049", "url": "https://glygen.org/publication/PubMed/28955049" } ] }, { "title": "Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling.", "journal": "PloS one", "date": "2018", "authors": "Cooper CJ, Dutta NT, Martin CE, Piscione TD, Thorner PS, Jones N", "evidence": [ { "database": "iPTMnet", "id": "O60500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60500" } ], "reference": [ { "type": "PubMed", "id": "30212551", "url": "https://glygen.org/publication/PubMed/30212551" } ] }, { "title": "Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2022", "authors": "Kim JY, Lee EJ, Seo J, Lee Y, Ahn Y, Park S, Bae YJ, Lee J, Lim BJ, Kim D, Cho JW, Oh SH", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" } ], "reference": [ { "type": "PubMed", "id": "35747929", "url": "https://glygen.org/publication/PubMed/35747929" } ] }, { "title": "Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome.", "journal": "Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia", "date": "2021", "authors": "El-Refaey AM, Elsamanoudy AZ, Elmorsy Z, Gaber E, Sarhan A, Hammad A, Zedan MM, Bakr A", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" } ], "reference": [ { "type": "PubMed", "id": "35946274", "url": "https://glygen.org/publication/PubMed/35946274" } ] }, { "title": "Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKC\u03b4 Activation.", "journal": "International journal of molecular sciences", "date": "2023-02-07", "authors": "Imeri Faik, Stepanovska Tanturovska Bisera, Manaila Roxana, Pavenst\u00e4dt Hermann, Pfeilschifter Josef, Huwiler Andrea", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" } ], "reference": [ { "type": "PubMed", "id": "36834691", "url": "https://glygen.org/publication/PubMed/36834691" } ] }, { "title": "Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "2024-01", "authors": "Horinouchi Tomoko, Nagano China, Watts Andrew J B", "evidence": [ { "database": "RefSeq", "id": "NP_004637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004637" } ], "reference": [ { "type": "PubMed", "id": "37495741", "url": "https://glygen.org/publication/PubMed/37495741" } ] }, { "title": "Positionally cloned gene for a novel glomerular protein -- nephrin -- is mutated in congenital nephrotic syndrome.", "journal": "Mol. Cell", "date": "1998", "authors": "Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" }, { "database": "dbSNP", "id": "rs386833873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386833873" } ], "reference": [ { "type": "PubMed", "id": "9660941", "url": "https://glygen.org/publication/PubMed/9660941" } ] }, { "title": "Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.", "journal": "American journal of human genetics", "date": "1999", "authors": "Lenkkeri U, Mannikko M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestila M, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "reference": [ { "type": "PubMed", "id": "9915943", "url": "https://glygen.org/publication/PubMed/9915943" } ] } ], "pathway": [ { "id": "hsa:4868", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4868", "resource": "KEGG Pathway" }, { "id": "R-HSA-373753", "name": "Nephrin family interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753", "resource": "Reactome", "description": "Nephrin family interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "Q0E9F2-1", "protein_name": "Sticks and stones, isoform B", "gene_name": "sns", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": 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"length": 1252 }, "evidence": [ { "id": "45921943", "url": "http://www.informatics.jax.org/homology/45921943", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "slit diaphragm assembly", "id": "GO:0036060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036060", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0072015", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "glomerular basement membrane development", "id": "GO:0032836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032836", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "slit diaphragm", "id": "GO:0036057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036057", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" }, { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1077, "end_pos": 1079, "annotation": "n_glycosylation_sequon" }, { "start_pos": 356, "end_pos": 358, "annotation": "n_glycosylation_sequon" }, { "start_pos": 401, "end_pos": 403, "annotation": "n_glycosylation_sequon" }, { "start_pos": 40, "end_pos": 42, "annotation": "n_glycosylation_sequon" }, { "start_pos": 547, "end_pos": 549, "annotation": "n_glycosylation_sequon" }, { "start_pos": 553, "end_pos": 555, "annotation": "n_glycosylation_sequon" }, { "start_pos": 564, "end_pos": 566, "annotation": 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Tyrosine phosphorylation is reduced by high glucose levels (PubMed:28955049). Dephosphorylated by tensin TNS2 which leads to reduced binding of NPHN1 to PIK3R1 (PubMed:28955049).", "evidence": [ { "database": "UniProtKB", "id": "O60500", "url": "https://www.uniprot.org/uniprot/O60500" }, { "database": "PubMed", "id": "28955049", "url": "https://glygen.org/publication/PubMed/28955049" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 40, 356, 401, 547, 553, 564, 577, 680, 708, 908 ], "o_linked_sites": [], "snv_sites": [ 40, 41, 42, 170, 268, 358, 401, 403, 430, 547, 566, 577, 579, 682, 710, 784, 800, 813, 855, 856, 910, 929, 937, 1092 ], "glycation_sites": [], "phosphorylation_sites": [ 432, 1098, 1101, 1105, 1120, 1125, 1176, 1193, 1217 ], "sequon_annotation_sites": [ { "start_pos": 1077, "end_pos": 1079 }, { "start_pos": 356, "end_pos": 358 }, { "start_pos": 401, "end_pos": 403 }, { "start_pos": 40, "end_pos": 42 }, { "start_pos": 547, "end_pos": 549 }, { "start_pos": 553, "end_pos": 555 }, { "start_pos": 564, "end_pos": 566 }, { "start_pos": 577, "end_pos": 579 }, { "start_pos": 680, "end_pos": 682 }, { "start_pos": 708, "end_pos": 710 }, { "start_pos": 908, "end_pos": 910 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 10 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 10 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 29 }, { "field": "total_sites", "count": 24 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 56 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }