{ "uniprot_canonical_ac": "O43490-1", "uniprot_ac": "O43490", "uniprot_id": "PROM1_HUMAN", "mass": { "chemical_mass": 97202.0, "monoisotopic_mass": 97202.0 }, "refseq": { "ac": "NP_001139319", "name": "prominin-1 isoform 2 precursor", "summary": "This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" }, "gene_names": [ { "name": "PROM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43490", "id": "O43490" }, { "name": "AC133; CD133; CORD12; MCDR2; MSTP061; PROML1; RP41; STGD4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319", "id": "NP_001139319" }, { "name": "MSTP061", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43490", "id": "O43490" }, { "name": "PROM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319", "id": "NP_001139319" }, { "name": "PROML1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43490", "id": "O43490" } ], "protein_names": [ { "name": "Prominin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43490" }, { "name": "Antigen AC133", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43490" }, { "name": "Prominin-like protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43490" }, { "name": "hProminin; hematopoietic stem cell antigen; antigen AC133; prominin-like protein 1; AC133 antigen; Retinitis pigmentosa 41, Cone-rod dystrophy 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319", "id": "NP_001139319" }, { "name": "prominin-1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319", "id": "NP_001139319" } ], "function": [ { "annotation": "Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" }, { "database": "PubMed", "id": "37975849", "url": "https://glygen.org/publication/PubMed/37975849" } ] }, { "annotation": "Exosomes from metastatic colon cancer cells drive the proliferation and migration of primary colon cancer through increased expression of cancer stem cell markers CD133 and DCLK1.", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" }, { "database": "PubMed", "id": "37487255", "url": "https://glygen.org/publication/PubMed/37487255" } ] }, { "annotation": "Functional Roles of CD133: More than Stemness Associated Factor Regulated by the Microenvironment. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" }, { "database": "PubMed", "id": "37922108", "url": "https://glygen.org/publication/PubMed/37922108" } ] }, { "annotation": "Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" }, { "database": "PubMed", "id": "38072963", "url": "https://glygen.org/publication/PubMed/38072963" } ] }, { "annotation": "Impact of heterogeneous nuclear ribonucleoprotein A/B subtype overexpression on the expression of cancer stem cell markers CD133 and CD44 and cellular proliferation capacity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" }, { "database": "PubMed", "id": "38279469", "url": "https://glygen.org/publication/PubMed/38279469" } ] }, { "annotation": "May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490#function" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" }, { "database": "PubMed", "id": "20818439", "url": "https://glygen.org/publication/PubMed/20818439" } ] }, { "annotation": "This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" } ] } ], "disease": [ { "disease_id": "DOID:0050817", "recommended_name": { "id": "DOID:0050817", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050817", "name": "Stargardt disease", "description": "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." }, "synonyms": [ { "id": "DOID:0050817", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050817", "name": "STARGARDT DISEASE 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "severe early-childhood-onset retinal dystrophy", "description": "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "EOSRD", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "SECORD", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stargardt disease type 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "early-onset severe retinal dystrophy", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "STGD1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stargardt disease 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stgd", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "fundus flavimaculatus", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "macular Degeneration, juvenile", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "macular dystrophy with flecks, type 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "retinal dystrophy, early-onset severe", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "PROM1 Stargardt disease", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease type 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "STGD4", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease type 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "STGD3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt-like macular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "macular dystrophy with flecks, type 3", "description": "" }, { "id": "MIM:248200", "resource": "MIM", "url": "https://www.omim.org/entry/248200", "name": "Stargardt disease 1", "description": "Stargardt disease 1" }, { "id": "MIM:603786", "resource": "MIM", "url": "https://www.omim.org/entry/603786", "name": "Stargardt disease 4", "description": "Stargardt disease 4" }, { "id": "MIM:600110", "resource": "MIM", "url": "https://www.omim.org/entry/600110", "name": "Stargardt disease 3", "description": "Stargardt disease 3" } ], "evidence": [ { "id": "603786", "database": "MIM", "url": "https://www.omim.org/entry/603786" } ] }, { "disease_id": "DOID:0110376", "recommended_name": { "id": "DOID:0110376", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110376", "name": "retinitis pigmentosa 41", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15." }, "synonyms": [ { "id": "DOID:0110376", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110376", "name": "RP41", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "retinitis pigmentosa 41", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "PROM1 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "RP41", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "retinitis pigmentosa 41", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "retinitis pigmentosa caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "retinitis pigmentosa type 41", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "RP 41", "description": "" }, { "id": "MONDO:0012796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012796", "name": "retinal Degeneration, autosomal recessive, prominin-related", "description": "" }, { "id": "MIM:612095", "resource": "MIM", "url": "https://www.omim.org/entry/612095", "name": "Retinitis pigmentosa 41", "description": "Retinitis pigmentosa 41" } ], "evidence": [ { "id": "612095", "database": "MIM", "url": "https://www.omim.org/entry/612095" } ] }, { "disease_id": "DOID:0111019", "recommended_name": { "id": "DOID:0111019", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111019", "name": "cone-rod dystrophy 12", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15." }, "synonyms": [ { "id": "DOID:0111019", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111019", "name": "CORD12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy 12", "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "CORD12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "PROM1 cone-rod dystrophy", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy 12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy type 12", "description": "" }, { "id": "MIM:612657", "resource": "MIM", "url": "https://www.omim.org/entry/612657", "name": "Cone-rod dystrophy 12", "description": "Cone-rod dystrophy 12" } ], "evidence": [ { "id": "612657", "database": "MIM", "url": "https://www.omim.org/entry/612657" } ] } ], "snv": [ { "evidence": [ { "id": "rs1235971819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235971819" }, { "id": "rs1235971819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235971819" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 152, "end_pos": 152, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "4", "chr_pos": "16033359", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1743853305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1743853305" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 18, "end_pos": 18, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSF->NSS).", "chr_id": "4", "chr_pos": "16075854", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F18", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43490", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43490" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "16025217", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R202", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "PROM1 Stargardt disease", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease type 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "STGD4", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease type 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "STGD3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt-like macular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "macular dystrophy with flecks, type 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy 12", "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "CORD12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "PROM1 cone-rod dystrophy", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy 12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy type 12", "description": "" }, { "id": "MIM:612657", "resource": "MIM", "url": "https://www.omim.org/entry/612657", "name": "Cone-rod dystrophy 12", "description": "Cone-rod dystrophy 12" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ] }, { "disease_id": "DOID:0050817", "recommended_name": { "id": "DOID:0050817", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050817", "name": "Stargardt disease", "description": "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." }, "synonyms": [ { "id": "DOID:0050817", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050817", "name": "STARGARDT DISEASE 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "severe early-childhood-onset retinal dystrophy", "description": "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "EOSRD", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "SECORD", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stargardt disease type 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "early-onset severe retinal dystrophy", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "STGD1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stargardt disease 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stgd", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "fundus flavimaculatus", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "macular Degeneration, juvenile", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "macular dystrophy with flecks, type 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "retinal dystrophy, early-onset severe", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "PROM1 Stargardt disease", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease type 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "STGD4", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease type 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "STGD3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt-like macular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "macular dystrophy with flecks, type 3", "description": "" }, { "id": "MIM:248200", "resource": "MIM", "url": "https://www.omim.org/entry/248200", "name": "Stargardt disease 1", "description": "Stargardt disease 1" }, { "id": "MIM:603786", "resource": "MIM", "url": "https://www.omim.org/entry/603786", "name": "Stargardt disease 4", "description": "Stargardt disease 4" }, { "id": "MIM:600110", "resource": "MIM", "url": "https://www.omim.org/entry/600110", "name": "Stargardt disease 3", "description": "Stargardt disease 3" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs938627050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938627050" }, { "id": "rs938627050", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs938627050#frequency_tab" }, { "id": "rs938627050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs938627050" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 667, "end_pos": 667, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLR->NLS).", "chr_id": "4", "chr_pos": "15989807", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43490", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43490" }, { "id": "rs1209283072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209283072" }, { "id": "rs1209283072", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1209283072#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 727, "end_pos": 727, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "4", "chr_pos": "15985988", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I727", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs756367402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756367402" }, { "id": "rs756367402", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756367402" }, { "id": "rs756367402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756367402" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 730, "end_pos": 730, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->STS).", "chr_id": "4", "chr_pos": "15985979", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N730", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750175937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750175937" }, { "id": "rs750175937", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750175937" }, { "id": "rs750175937", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750175937" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 732, "end_pos": 732, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTF).", "chr_id": "4", "chr_pos": "15985973", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S732", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764991143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764991143" }, { "id": "rs764991143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764991143" }, { "id": "rs764991143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764991143" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 845, "end_pos": 845, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "4", "chr_pos": "15979444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G845", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1734560540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1734560540" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 84, "end_pos": 84, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YES->NES).", "chr_id": "4", "chr_pos": "16038972", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y84", "disease": [ { "disease_id": "DOID:0111019", "recommended_name": { "id": "DOID:0111019", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111019", "name": "cone-rod dystrophy 12", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15." }, "synonyms": [ { "id": "DOID:0111019", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111019", "name": "CORD12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy 12", "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "CORD12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "PROM1 cone-rod dystrophy", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy 12", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0012983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012983", "name": "cone-rod dystrophy type 12", "description": "" }, { "id": "MIM:612657", "resource": "MIM", "url": "https://www.omim.org/entry/612657", "name": "Cone-rod dystrophy 12", "description": "Cone-rod dystrophy 12" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ] }, { "disease_id": "DOID:0050817", "recommended_name": { "id": "DOID:0050817", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050817", "name": "Stargardt disease", "description": "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." }, "synonyms": [ { "id": "DOID:0050817", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050817", "name": "STARGARDT DISEASE 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "severe early-childhood-onset retinal dystrophy", "description": "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "EOSRD", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "SECORD", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stargardt disease type 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "early-onset severe retinal dystrophy", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "STGD1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stargardt disease 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "Stgd", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "fundus flavimaculatus", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "macular Degeneration, juvenile", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "macular dystrophy with flecks, type 1", "description": "" }, { "id": "MONDO:0009549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009549", "name": "retinal dystrophy, early-onset severe", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "PROM1 Stargardt disease", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease caused by mutation in PROM1", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "Stargardt disease type 4", "description": "" }, { "id": "MONDO:0011370", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011370", "name": "STGD4", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt disease type 3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "STGD3", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "Stargardt-like macular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0010819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010819", "name": "macular dystrophy with flecks, type 3", "description": "" }, { "id": "MIM:248200", "resource": "MIM", "url": "https://www.omim.org/entry/248200", "name": "Stargardt disease 1", "description": "Stargardt disease 1" }, { "id": "MIM:603786", "resource": "MIM", "url": "https://www.omim.org/entry/603786", "name": "Stargardt disease 4", "description": "Stargardt disease 4" }, { "id": "MIM:600110", "resource": "MIM", "url": "https://www.omim.org/entry/600110", "name": "Stargardt disease 3", "description": "Stargardt disease 3" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 225, "end_pos": 225, "sequence_org": "K", "sequence_mut": "Q", "comment": "Loss of acetylation; when associated with Q-257 and Q-264.", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-257 and Q-264.", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] }, { "start_pos": 257, "end_pos": 257, "sequence_org": "K", "sequence_mut": "Q", "comment": "Loss of acetylation; when associated with Q-225 and Q-264.", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] }, { "start_pos": 257, "end_pos": 257, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-264.", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] }, { "start_pos": 264, "end_pos": 264, "sequence_org": "K", "sequence_mut": "Q", "comment": "Loss of acetylation; when associated with Q-225 and Q-257.", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] }, { "start_pos": 264, "end_pos": 264, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-257.", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "61.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.45", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "68.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007062" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43490", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43490" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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"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, 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"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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43490", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43490" } ], "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": 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"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": 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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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43490", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43490" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43490" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"categories": [ "Other" ] }, { "id": "604365", "url": "http://www.omim.org/entry/604365", "database": "MIM", "categories": [ "Other" ] }, { "id": "608051", "url": "http://www.omim.org/entry/608051", "database": "MIM", "categories": [ "Other" ] }, { "id": "612095", "url": "http://www.omim.org/entry/612095", "database": "MIM", "categories": [ "Other" ] }, { "id": "612657", "url": "http://www.omim.org/entry/612657", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43490", "url": "https://www.nextprot.org/entry/NX_O43490", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "VYHLMMY", "url": "https://omabrowser.org/oma/group/VYHLMMY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3538424at2759", "url": "http://www.orthodb.org/?query=3538424at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22730", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22730", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22730:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22730:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF05478", "url": "http://pfam.xfam.org/family/PF05478", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43490", "url": "https://pharos.nih.gov/targets/O43490", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43490", "url": "http://purl.obolibrary.org/obo/PR_O43490", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D6RBI0", "url": "https://www.uniprot.org/uniprot/D6RBI0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBI0-1", "url": "https://www.uniprot.org/uniprot/D6RBI0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCC3", "url": "https://www.uniprot.org/uniprot/D6RCC3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCC3-1", "url": "https://www.uniprot.org/uniprot/D6RCC3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RIF3", "url": "https://www.uniprot.org/uniprot/D6RIF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RIF3-1", "url": "https://www.uniprot.org/uniprot/D6RIF3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9D4", "url": "https://www.uniprot.org/uniprot/H0Y9D4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9D4-1", "url": "https://www.uniprot.org/uniprot/H0Y9D4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9M7", "url": "https://www.uniprot.org/uniprot/H0Y9M7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9M7-1", "url": "https://www.uniprot.org/uniprot/H0Y9M7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9Q5", "url": "https://www.uniprot.org/uniprot/H0Y9Q5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9Q5-1", "url": "https://www.uniprot.org/uniprot/H0Y9Q5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-1", "url": "https://www.uniprot.org/uniprot/O43490-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-2", "url": "https://www.uniprot.org/uniprot/O43490-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-3", "url": "https://www.uniprot.org/uniprot/O43490-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-4", "url": "https://www.uniprot.org/uniprot/O43490-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-5", "url": "https://www.uniprot.org/uniprot/O43490-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-6", "url": "https://www.uniprot.org/uniprot/O43490-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43490-7", "url": "https://www.uniprot.org/uniprot/O43490-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNMENGNNGYHKDHVYGIHNPVMTSPSQH", "length": 865, "header": "sp|O43490-1|PROM1_HUMAN Isoform 1 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "isoforms": [ { "isoform_ac": "D6RBI0-1", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATN", "length": 40, "header": "tr|D6RBI0-1|PROM1_HUMAN Computationally mapped isoform of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 16075787, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508940.1", "url": "https://www.ensembl.org/id/ENST00000508940.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422704.1", "url": "https://www.ensembl.org/id/ENSP00000422704.1" } ] } }, { "isoform_ac": "D6RCC3-1", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLC", "length": 14, "header": "tr|D6RCC3-1|PROM1_HUMAN Computationally mapped isoform of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 16075865, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514967.5", "url": "https://www.ensembl.org/id/ENST00000514967.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423793.1", "url": "https://www.ensembl.org/id/ENSP00000423793.1" } ] } }, { "isoform_ac": "D6RIF3-1", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFE", "length": 57, "header": "tr|D6RIF3-1|PROM1_HUMAN Computationally mapped isoform of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=8 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 16075736, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508322.1", "url": "https://www.ensembl.org/id/ENST00000508322.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425927.1", "url": "https://www.ensembl.org/id/ENSP00000425927.1" } ] } }, { "isoform_ac": "H0Y9D4-1", "url": "", "sequence": { "sequence": "XVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNPSQH", "length": 65, "header": "tr|H0Y9D4-1|PROM1_HUMAN Computationally mapped isoform of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 15984303, "end_pos": 15971069, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503884.5", "url": "https://www.ensembl.org/id/ENST00000503884.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423860.1", "url": "https://www.ensembl.org/id/ENSP00000423860.1" } ] } }, { "isoform_ac": "H0Y9M7-1", "url": "", "sequence": { "sequence": "XQDSHKAGPIGILFELVHIFLYVVQPRDFPEDENTKAQIGEACSFKTLQPNESW", "length": 54, "header": "tr|H0Y9M7-1|PROM1_HUMAN Computationally mapped isoform of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075778, "end_pos": 16055380, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511153.5", "url": "https://www.ensembl.org/id/ENST00000511153.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424569.1", "url": "https://www.ensembl.org/id/ENSP00000424569.1" } ] } }, { "isoform_ac": "H0Y9Q5-1", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDCLL", "length": 77, "header": "tr|H0Y9Q5-1|PROM1_HUMAN Computationally mapped isoform of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=2 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 16033499, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513946.2", "url": "https://www.ensembl.org/id/ENST00000513946.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000424738.2", "url": "https://www.ensembl.org/id/ENSP00000424738.2" } ] } }, { "isoform_ac": "O43490-1", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNMENGNNGYHKDHVYGIHNPVMTSPSQH", "length": 865, "header": "sp|O43490-1|PROM1_HUMAN Isoform 1 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 15971070, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447510.7", "url": "https://www.ensembl.org/id/ENST00000447510.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000415481.2", "url": "https://www.ensembl.org/id/ENSP00000415481.2" } ] } }, { "isoform_ac": "O43490-2", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNMENGNNGYHKDHVYGIHNPVMTSPSQH", "length": 856, "header": "sp|O43490-2|PROM1_HUMAN Isoform 2 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 15971070, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505450.5", "url": "https://www.ensembl.org/id/ENST00000505450.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426090.1", "url": "https://www.ensembl.org/id/ENSP00000426090.1" } ] } }, { "isoform_ac": "O43490-3", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDSSWVTSVQC", "length": 830, "header": "sp|O43490-3|PROM1_HUMAN Isoform 3 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": {} }, { "isoform_ac": "O43490-4", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNPSQH", "length": 833, "header": "sp|O43490-4|PROM1_HUMAN Isoform 4 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 15971070, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540805.6", "url": "https://www.ensembl.org/id/ENST00000540805.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000438045.2", "url": "https://www.ensembl.org/id/ENSP00000438045.2" } ] } }, { "isoform_ac": "O43490-5", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDPSQH", "length": 825, "header": "sp|O43490-5|PROM1_HUMAN Isoform 5 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 15971070, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675613.1", "url": "https://www.ensembl.org/id/ENST00000675613.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501741.1", "url": "https://www.ensembl.org/id/ENSP00000501741.1" } ] } }, { "isoform_ac": "O43490-6", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDPSQH", "length": 834, "header": "sp|O43490-6|PROM1_HUMAN Isoform 6 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { "chromosome": "4", "start_pos": 16075906, "end_pos": 15971070, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539194.6", "url": "https://www.ensembl.org/id/ENST00000539194.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000443620.1", "url": "https://www.ensembl.org/id/ENSP00000443620.1" } ] } }, { "isoform_ac": "O43490-7", "url": "", "sequence": { "sequence": "MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNPSQH", "length": 842, "header": "sp|O43490-7|PROM1_HUMAN Isoform 7 of Prominin-1 OS=Homo sapiens OX=9606 GN=PROM1 PE=1 SV=1 CANONICAL=O43490-1" }, "locus": { 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"https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G20312EM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 274, "start_aa": "Asn", "end_pos": 274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn274", "evidence": [ { "id": "1642", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1642" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 274, "start_aa": "Asn", "end_pos": 274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn274", "evidence": [ { "id": "1642", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1642" }, { "id": "29741879", "database": "PubMed", "url": 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"https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G81198YO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 274, "start_aa": "Asn", "end_pos": 274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn274", "evidence": [ { "id": "1642", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1642" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G82463GQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 274, "start_aa": "Asn", "end_pos": 274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn274", "evidence": [ { "id": "1642", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1642" }, { "id": "29741879", "database": "PubMed", "url": 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"http://research.bioinformatics.udel.edu/iptmnet/entry/O43490" } ], "site_lbl": "Ser863" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.", "journal": "Hum. Mol. Genet.", "date": "2000", "authors": "Maw MA, Corbeil D, Koch J, Hellwig A, Wilson-Wheeler JC, Bridges RJ, Kumaramanickavel G, John S, Nancarrow D, Roper K, Weigmann A, Huttner WB, Denton MJ", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "10587575", "url": "https://glygen.org/publication/PubMed/10587575" } ] }, { "title": "AC133-2, a novel isoform of human AC133 stem cell antigen.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yu Y, Flint A, Dvorin EL, Bischoff J", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "12042327", "url": "https://glygen.org/publication/PubMed/12042327" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43490-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43490-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Nomenclature of prominin-1 (CD133) splice variants - an update.", "journal": "Tissue Antigens", "date": "2007", "authors": "Fargeas C A, Huttner W B, Corbeil D", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "17498271", "url": "https://glygen.org/publication/PubMed/17498271" } ] }, { "title": "Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.", "journal": "Hum. Genet.", "date": "2007", "authors": "Zhang Qingjiong, Zulfiqar Fareeha, Xiao Xueshan, Riazuddin S Amer, Ahmad Zahoor, Caruso Raphael, MacDonald Ian, Sieving Paul, Riazuddin Sheikh, Hejtmancik J Fielding", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "17605048", "url": "https://glygen.org/publication/PubMed/17605048" } ] }, { "title": "Differential expression of prominin-1 (CD133) and prominin-2 in major cephalic exocrine glands of adult mice.", "journal": "Histochem. Cell Biol.", "date": "2007", "authors": "Jaszai J, Janich P, Farkas LM, Fargeas CA, Huttner WB, Corbeil D", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "17874118", "url": "https://glygen.org/publication/PubMed/17874118" } ] }, { "title": "The stem cell marker prominin-1/CD133 on membrane particles in human cerebrospinal fluid offers novel approaches for studying central nervous system disease.", "journal": "Stem Cells", "date": "2008", "authors": "Huttner Hagen B, Janich Peggy, K\u00f6hrmann Martin, J\u00e1szai J\u00f3zsef, Siebzehnrubl Florian, Bl\u00fcmcke Ingmar, Suttorp Meinolf, Gahr Manfred, Kuhnt Daniela, Nimsky Christopher, Krex Dietmar, Schackert Gabriele, L\u00f6wenbr\u00fcck Kai, Reichmann Heinz, J\u00fcttler Eric, Hacke Werner, Schellinger Peter D, Schwab Stefan, Wilsch-Br\u00e4uninger Michaela, Marzesco Anne-Marie, Corbeil Denis", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "18096722", "url": "https://glygen.org/publication/PubMed/18096722" } ] }, { "title": "Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.", "journal": "The Journal of clinical investigation", "date": "2008", "authors": "Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "18654668", "url": "https://glygen.org/publication/PubMed/18654668" } ] }, { "title": "The stem cell marker CD133 (prominin-1) is phosphorylated on cytoplasmic tyrosine-828 and tyrosine-852 by Src and Fyn tyrosine kinases.", "journal": "Biochemistry", "date": "2009", "authors": "Boivin D, Labbe D, Fontaine N, Lamy S, Beaulieu E, Gingras D, Beliveau R", "evidence": [ { "database": "iPTMnet", "id": "O43490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43490" } ], "reference": [ { "type": "PubMed", "id": "19296573", "url": "https://glygen.org/publication/PubMed/19296573" } ] }, { "title": "Release of extracellular membrane vesicles from microvilli of epithelial cells is enhanced by depleting membrane cholesterol.", "journal": "FEBS Lett.", "date": "2009", "authors": "Marzesco Anne-Marie, Wilsch-Br\u00e4uninger Michaela, Dubreuil V\u00e9ronique, Janich Peggy, Langenfeld Katja, Thiele Christoph, Huttner Wieland B, Corbeil Denis", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "19302789", "url": "https://glygen.org/publication/PubMed/19302789" } ] }, { "title": "CD133 suppresses neuroblastoma cell differentiation via signal pathway modification.", "journal": "Oncogene", "date": "2011-01-06", "authors": "Takenobu H, Shimozato O, Nakamura T, Ochiai H, Yamaguchi Y, Ohira M, Nakagawara A, Kamijo T", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "20818439", "url": "https://glygen.org/publication/PubMed/20818439" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" }, { "database": "iPTMnet", "id": "O43490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43490" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Activation of PI3K/Akt pathway by CD133-p85 interaction promotes tumorigenic capacity of glioma stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Wei Y, Jiang Y, Zou F, Liu Y, Wang S, Xu N, Xu W, Cui C, Xing Y, Liu Y, Cao B, Liu C, Wu G, Ao H, Zhang X, Jiang J", "evidence": [ { "database": "iPTMnet", "id": "O43490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43490" } ], "reference": [ { "type": "PubMed", "id": "23569237", "url": "https://glygen.org/publication/PubMed/23569237" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Post-translational regulation of CD133 by ATase1/ATase2-mediated lysine acetylation.", "journal": "Journal of molecular biology", "date": "2014", "authors": "Mak AB, Pehar M, Nixon AM, Williams RA, Uetrecht AC, Puglielli L, Moffat J", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "24556617", "url": "https://glygen.org/publication/PubMed/24556617" } ] }, { "title": "Mutation of N-linked glycosylation at Asn548 in CD133 decreases its ability to promote hepatoma cell growth.", "journal": "Oncotarget", "date": "2015", "authors": "Liu Y, Ren S, Xie L, Cui C, Xing Y, Liu C, Cao B, Yang F, Li Y, Chen X, Wei Y, Lu H, Jiang J", "evidence": [ { "database": "Automatic Literature Mining", "id": "26029999", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/26029999" }, { "database": "iPTMnet", "id": "O43490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43490" } ], "reference": [ { "type": "PubMed", "id": "26029999", "url": "https://glygen.org/publication/PubMed/26029999" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1642", "url": "https://glyconnect.expasy.org/browser/proteins/1642" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Recycling endosomal CD133 functions as an inhibitor of autophagy at the pericentrosomal region.", "journal": "Scientific reports", "date": "2019", "authors": "Izumi H, Li Y, Shibaki M, Mori D, Yasunami M, Sato S, Matsunaga H, Mae T, Kodama K, Kamijo T, Kaneko Y, Nakagawara A", "evidence": [ { "database": "iPTMnet", "id": "O43490", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43490" } ], "reference": [ { "type": "PubMed", "id": "30783186", "url": "https://glygen.org/publication/PubMed/30783186" } ] }, { "title": "Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.", "journal": "Investigative ophthalmology & visual science", "date": "2022-08-02", "authors": "Martin-Gutierrez Maria Pilar, Schiff Elena R, Wright Genevieve, Waseem Naushin, Mahroo Omar A, Michaelides Michel, Moore Anthony T, Webster Andrew R, Arno Gavin,", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "35947379", "url": "https://glygen.org/publication/PubMed/35947379" } ] }, { "title": "Exosomes from metastatic colon cancer cells drive the proliferation and migration of primary colon cancer through increased expression of cancer stem cell markers CD133 and DCLK1.", "journal": "Tissue & cell", "date": "2023-10", "authors": "Yasodha K, Lizha Mary L, Surajit Pathak, Satish R", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" } ], "reference": [ { "type": "PubMed", "id": "37487255", "url": "https://glygen.org/publication/PubMed/37487255" } ] }, { "title": "Functional Roles of CD133: More than Stemness Associated Factor Regulated by the Microenvironment.", "journal": "Stem cell reviews and reports", "date": "2024-01", "authors": "Moreno-Londo\u00f1o Angela Patricia, Robles-Flores Martha", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" } ], "reference": [ { "type": "PubMed", "id": "37922108", "url": "https://glygen.org/publication/PubMed/37922108" } ] }, { "title": "Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.", "journal": "Investigative ophthalmology & visual science", "date": "2023-11-01", "authors": "Lin Tzu-Yi, Wu Pei-Liang, Kang Eugene Yu-Chuan, Chi Yi-Chun, Jenny Laura A, Lin Pei-Hsuan, Lee Chia-Ying, Liu Chun-Hsiu, Liu Laura, Yeh Lung-Kun, Chen Kuan-Jen, Hwang Yih-Shiou, Wu Wei-Chi, Lai Chi-Chun, Hsiao Meng-Chang, Liu Pei-Kang, Wang Nan-Kai", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" } ], "reference": [ { "type": "PubMed", "id": "37975849", "url": "https://glygen.org/publication/PubMed/37975849" } ] }, { "title": "Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.", "journal": "Scientific reports", "date": "2023-12-11", "authors": "Hwang Sungsoon, Kang Se Woong, Jang Ja-Hyun, Kim Sang Jin", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" } ], "reference": [ { "type": "PubMed", "id": "38072963", "url": "https://glygen.org/publication/PubMed/38072963" } ] }, { "title": "Impact of heterogeneous nuclear ribonucleoprotein A/B subtype overexpression on the expression of cancer stem cell markers CD133 and CD44 and cellular proliferation capacity.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2023-12-20", "authors": "Wang Meng, Wang Xian, Cui Yaping, Wen Xing", "evidence": [ { "database": "RefSeq", "id": "NP_001139319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139319" } ], "reference": [ { "type": "PubMed", "id": "38279469", "url": "https://glygen.org/publication/PubMed/38279469" } ] }, { "title": "AC133, a novel marker for human hematopoietic stem and progenitor cells.", "journal": "Blood", "date": "1997", "authors": "Yin AH, Miraglia S, Zanjani ED, Almeida-Porada G, Ogawa M, Leary AG, Olweus J, Kearney J, Buck DW", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "9389720", "url": "https://glygen.org/publication/PubMed/9389720" } ] }, { "title": "A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning.", "journal": "Blood", "date": "1997", "authors": "Miraglia S, Godfrey W, Yin AH, Atkins K, Warnke R, Holden JT, Bray RA, Waller EK, Buck DW", "evidence": [ { "database": "UniProtKB", "id": "O43490", "url": "https://www.uniprot.org/uniprot/O43490" } ], "reference": [ { "type": "PubMed", "id": "9389721", "url": "https://glygen.org/publication/PubMed/9389721" } ] } ], "pathway": [ { "id": "hsa:8842", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8842", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JWD0-1", "protein_name": "Prominin 1", "gene_name": "Prom1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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