{ "uniprot_canonical_ac": "O60934-1", "uniprot_ac": "O60934", "uniprot_id": "NBN_HUMAN", "mass": { "chemical_mass": 84959.0, "monoisotopic_mass": 84959.0 }, "refseq": { "ac": "NP_001019859", "name": "nibrin isoform 2", "summary": "Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" }, "gene_names": [ { "name": "NBN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60934", "id": "O60934" }, { "name": "AT-V1; AT-V2; ATV; NBS; NBS1; P95", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859", "id": "NP_001019859" }, { "name": "NBN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859", "id": "NP_001019859" }, { "name": "NBS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60934", "id": "O60934" }, { "name": "NBS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60934", "id": "O60934" }, { "name": "P95", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60934", "id": "O60934" }, { "name": "hCG_33061", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60934", "id": "O60934" } ], "protein_names": [ { "name": "Nibrin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60934" }, { "name": "Cell cycle regulatory protein p95", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60934" }, { "name": "Nijmegen breakage syndrome 1 (nibrin); p95 protein of the MRE11/RAD50 complex; cell cycle regulatory protein p95", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859", "id": "NP_001019859" }, { "name": "Nijmegen breakage syndrome protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60934" }, { "name": "nibrin isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859", "id": "NP_001019859" } ], "function": [ { "annotation": "Association of DNA repair genes polymorphisms with childhood acute lymphoblastic leukemia: a high-resolution melting analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001019859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" }, { "database": "PubMed", "id": "35164849", "url": "https://glygen.org/publication/PubMed/35164849" } ] }, { "annotation": "Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis.", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DG07", "url": "https://www.uniprot.org/uniprot/A0A0C4DG07#function" }, { "database": "UniProtKB", "id": "PIRNR011869", "url": "https://www.uniprot.org/uniprot/PIRNR011869#function" }, { "database": "UniProtKB", "id": "A0A8V8TKW6", "url": "https://www.uniprot.org/uniprot/A0A8V8TKW6#function" }, { "database": "UniProtKB", "id": "A0A8V8TM88", "url": "https://www.uniprot.org/uniprot/A0A8V8TM88#function" }, { "database": "UniProtKB", "id": "A0A8V8TM80", "url": "https://www.uniprot.org/uniprot/A0A8V8TM80#function" }, { "database": "UniProtKB", "id": "O60934", "url": "https://www.uniprot.org/uniprot/O60934#function" }, { "database": "PubMed", "id": "10888888", "url": "https://glygen.org/publication/PubMed/10888888" }, { "database": "PubMed", "id": "23762398", "url": "https://glygen.org/publication/PubMed/23762398" }, { "database": "PubMed", "id": "9705271", "url": "https://glygen.org/publication/PubMed/9705271" }, { "database": "PubMed", "id": "15616588", "url": "https://glygen.org/publication/PubMed/15616588" }, { "database": "PubMed", "id": "19759395", "url": "https://glygen.org/publication/PubMed/19759395" }, { "database": "PubMed", "id": "26438602", "url": "https://glygen.org/publication/PubMed/26438602" }, { "database": "UniProtKB", "id": "A0A8V8TM94", "url": "https://www.uniprot.org/uniprot/A0A8V8TM94#function" }, { "database": "UniProtKB", "id": "A0A8V8TKY5", "url": "https://www.uniprot.org/uniprot/A0A8V8TKY5#function" }, { "database": "UniProtKB", "id": "A0A8V8TMH1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMH1#function" }, { "database": "UniProtKB", "id": "A0A8V8TMH6", "url": "https://www.uniprot.org/uniprot/A0A8V8TMH6#function" } ] }, { "annotation": "Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001019859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" } ] }, { "annotation": "NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.", "evidence": [ { "database": "RefSeq", "id": "NP_001019859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" }, { "database": "PubMed", "id": "36346689", "url": "https://glygen.org/publication/PubMed/36346689" } ] }, { "annotation": "Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001019859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" }, { "database": "PubMed", "id": "37296499", "url": "https://glygen.org/publication/PubMed/37296499" } ] }, { "annotation": "The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.", "evidence": [ { "database": "RefSeq", "id": "NP_001019859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" }, { "database": "PubMed", "id": "36806726", "url": "https://glygen.org/publication/PubMed/36806726" } ] }, { "annotation": "XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.", "evidence": [ { "database": "RefSeq", "id": "NP_001019859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019859" }, { "database": "PubMed", "id": "37006067", "url": "https://glygen.org/publication/PubMed/37006067" } ] } ], "disease": [ { "disease_id": "DOID:12449", "recommended_name": { "id": "DOID:12449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12449", "name": "aplastic anemia", "description": "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow." }, "synonyms": [ { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic aplastic anemia", "description": "Aplastic anemia without a known cause." }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic aplastic aplasia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic bone marrow failure", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "anaemia aplastic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "anemia aplastic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic Anemia, susceptibility to", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anaemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anaemia idiopathic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anemia idiopathic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "secondary aplastic anaemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "secondary aplastic anemia", "description": "" }, { "id": "MIM:609135", "resource": "MIM", "url": "https://www.omim.org/entry/609135", "name": "Aplastic anemia", "description": "Aplastic anemia" } ], "evidence": [ { "id": "609135", "database": "MIM", "url": "https://www.omim.org/entry/609135" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "114480", "database": "MIM", "url": "https://www.omim.org/entry/114480" } ] }, { "disease_id": "DOID:7400", "recommended_name": { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Nijmegen breakage syndrome", "description": "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3." }, "synonyms": [ { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Berlin breakage syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "immunodeficiency-microcephaly-chromosomal instability syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "NBS", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome II", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "ataxia-telangiectasia variant", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "AT V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Berlin breakage syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "NBs", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia, variant 1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency-microcephaly-chromosomal instability syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency, microcephaly, and chromosomal instability", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly immunodeficiency lymphoreticuloma", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies", "description": "" }, { "id": "MIM:251260", "resource": "MIM", "url": "https://www.omim.org/entry/251260", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome" } ], "evidence": [ { "id": "251260", "database": "MIM", "url": "https://www.omim.org/entry/251260" } ] } ], "snv": [ { "evidence": [ { "id": "rs730881858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730881858" }, { "id": "rs730881858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730881858" }, { "id": "rs730881858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs730881858#frequency_tab" }, { "id": "rs730881858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs730881858" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 156, "end_pos": 156, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "8", "chr_pos": "89980746", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K156", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:7400", "recommended_name": { "id": "DOID:7400", 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"DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "NBS", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome II", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "ataxia-telangiectasia variant", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage 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"https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency, microcephaly, and chromosomal instability", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly immunodeficiency lymphoreticuloma", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies", "description": "" }, { "id": "MIM:251260", "resource": "MIM", "url": "https://www.omim.org/entry/251260", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome" } ] } ] }, { "evidence": [ { "id": "O60934", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60934" } ], "glycoeffect": [], "start_pos": 185, "end_pos": 185, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (8).", "chr_id": "8", "chr_pos": "89978251", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E185", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "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": 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"https://www.ncbi.nlm.nih.gov/snp/rs104895032#frequency_tab" }, { "id": "rs104895032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104895032" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 421, "end_pos": 421, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTL->NTS).", "chr_id": "8", "chr_pos": "89955418", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "L421", "disease": [ { "disease_id": "DOID:9952", "recommended_name": { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts." }, "synonyms": [ { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "ALL", "description": "" }, { "id": "DOID:9952", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1064796613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064796613" }, { "id": "rs1064796613", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1064796613" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 645, "end_pos": 645, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "8", "chr_pos": "89946277", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D645", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:7400", "recommended_name": { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Nijmegen breakage syndrome", "description": "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3." }, "synonyms": [ { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Berlin breakage syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "immunodeficiency-microcephaly-chromosomal instability syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "NBS", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome II", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "ataxia-telangiectasia variant", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "AT V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Berlin breakage syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "NBs", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia, variant 1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency-microcephaly-chromosomal instability syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency, microcephaly, and chromosomal instability", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly immunodeficiency lymphoreticuloma", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies", "description": "" }, { "id": "MIM:251260", "resource": "MIM", "url": "https://www.omim.org/entry/251260", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome" } ] } ] }, { "evidence": [ { "id": "rs6413508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6413508" }, { "id": "rs6413508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6413508" }, { "id": "rs6413508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6413508#frequency_tab" }, { "id": "rs6413508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6413508" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 672, "end_pos": 672, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "8", "chr_pos": "89946195", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P672", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:7400", "recommended_name": { "id": "DOID:7400", 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"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", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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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": "O60934", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60934", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "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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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60934", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "O60934", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60934", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60934" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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{ "id": "O60934-1", "url": "https://www.uniprot.org/uniprot/O60934-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 754, "header": "sp|O60934-1|NBN_HUMAN Isoform 1 of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "isoforms": [ { "isoform_ac": "A0A087X1V5-1", "url": "", "sequence": { "sequence": "KVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 124, "header": "tr|A0A087X1V5-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89953354, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613033.1", "url": "https://www.ensembl.org/id/ENST00000613033.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000484487.1", "url": "https://www.ensembl.org/id/ENSP00000484487.1" } ] } }, { "isoform_ac": "A0A0C4DG07-1", "url": "", "sequence": { "sequence": "MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 672, "header": "tr|A0A0C4DG07-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89981448, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409330.5", "url": "https://www.ensembl.org/id/ENST00000409330.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386924.1", "url": "https://www.ensembl.org/id/ENSP00000386924.1" } ] } }, { "isoform_ac": "A0A8V8TKV9-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLNRV", "length": 60, "header": "tr|A0A8V8TKV9-1|A0A8V8TKV9_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89980885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697296.1", "url": "https://www.ensembl.org/id/ENST00000697296.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513233.1", "url": "https://www.ensembl.org/id/ENSP00000513233.1" } ] } }, { "isoform_ac": "A0A8V8TKW6-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 731, "header": "tr|A0A8V8TKW6-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697308.1", "url": "https://www.ensembl.org/id/ENST00000697308.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513243.1", "url": "https://www.ensembl.org/id/ENSP00000513243.1" } ] } }, { "isoform_ac": "A0A8V8TKY0-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKS", "length": 161, "header": "tr|A0A8V8TKY0-1|A0A8V8TKY0_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89980426, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697303.1", "url": "https://www.ensembl.org/id/ENST00000697303.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513239.1", "url": "https://www.ensembl.org/id/ENSP00000513239.1" } ] } }, { "isoform_ac": "A0A8V8TKY5-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEIQSLFKKEKITEDFKKKPWKNFLVSIYFRPTRLYEYIVYRSDLSYNVLWPKFIK", "length": 782, "header": "tr|A0A8V8TKY5-1|A0A8V8TKY5_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89935451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697309.1", "url": "https://www.ensembl.org/id/ENST00000697309.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513244.1", "url": "https://www.ensembl.org/id/ENSP00000513244.1" } ] } }, { "isoform_ac": "A0A8V8TL91-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRCLWENCFKSSYIATWRIYCKQLDRRMHSPCHGISESYH", "length": 145, "header": "tr|A0A8V8TL91-1|A0A8V8TL91_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89980738, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697294.1", "url": "https://www.ensembl.org/id/ENST00000697294.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513231.1", "url": "https://www.ensembl.org/id/ENSP00000513231.1" } ] } }, { "isoform_ac": "A0A8V8TL95-1", "url": "", "sequence": { "sequence": "MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKS", "length": 79, "header": "tr|A0A8V8TL95-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89981448, "end_pos": 89980426, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697300.1", "url": "https://www.ensembl.org/id/ENST00000697300.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513236.1", "url": "https://www.ensembl.org/id/ENSP00000513236.1" } ] } }, { "isoform_ac": "A0A8V8TL98-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKD", "length": 161, "header": "tr|A0A8V8TL98-1|A0A8V8TL98_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89958852, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697306.1", "url": "https://www.ensembl.org/id/ENST00000697306.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513241.1", "url": "https://www.ensembl.org/id/ENSP00000513241.1" } ] } }, { "isoform_ac": "A0A8V8TLA3-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKFLPTS", "length": 165, "header": "tr|A0A8V8TLA3-1|A0A8V8TLA3_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89971276, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697312.1", "url": "https://www.ensembl.org/id/ENST00000697312.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513247.1", "url": "https://www.ensembl.org/id/ENSP00000513247.1" } ] } }, { "isoform_ac": "A0A8V8TM80-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMELPFYCFPHYLLLEFQLNVQNQHAKEESLADDLFRYNPYLKRRR", "length": 771, "header": "tr|A0A8V8TM80-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697293.1", "url": "https://www.ensembl.org/id/ENST00000697293.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513230.1", "url": "https://www.ensembl.org/id/ENSP00000513230.1" } ] } }, { "isoform_ac": "A0A8V8TM88-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIERQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 650, "header": "tr|A0A8V8TM88-1|A0A8V8TM88_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697304.1", "url": "https://www.ensembl.org/id/ENST00000697304.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513240.1", "url": "https://www.ensembl.org/id/ENSP00000513240.1" } ] } }, { "isoform_ac": "A0A8V8TM94-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVSRK", "length": 732, "header": "tr|A0A8V8TM94-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89943241, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697311.1", "url": "https://www.ensembl.org/id/ENST00000697311.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513246.1", "url": "https://www.ensembl.org/id/ENSP00000513246.1" } ] } }, { "isoform_ac": "A0A8V8TMG0-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGVFTHLLMNHLLEVKMLICQDGRKENKSSKGKHLYF", "length": 47, "header": "tr|A0A8V8TMG0-1|A0A8V8TMG0_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=4 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89971187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697295.1", "url": "https://www.ensembl.org/id/ENST00000697295.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513232.1", "url": "https://www.ensembl.org/id/ENSP00000513232.1" } ] } }, { "isoform_ac": "A0A8V8TMG6-1", "url": "", "sequence": { "sequence": "MQNGFSRTLKSGDGITFGVFGSKFRCLWENCFKSSYIATWRIYCKQLDRRMHSPCHGISESYH", "length": 63, "header": "tr|A0A8V8TMG6-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89981448, "end_pos": 89980738, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697301.1", "url": "https://www.ensembl.org/id/ENST00000697301.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513237.1", "url": "https://www.ensembl.org/id/ENSP00000513237.1" } ] } }, { "isoform_ac": "A0A8V8TMH1-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 679, "header": "tr|A0A8V8TMH1-1|A0A8V8TMH1_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697307.1", "url": "https://www.ensembl.org/id/ENST00000697307.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513242.1", "url": "https://www.ensembl.org/id/ENSP00000513242.1" } ] } }, { "isoform_ac": "A0A8V8TMH6-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMESPRRGG", "length": 734, "header": "tr|A0A8V8TMH6-1|A0A8V8TMH6_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89937776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697315.1", "url": "https://www.ensembl.org/id/ENST00000697315.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513248.1", "url": "https://www.ensembl.org/id/ENSP00000513248.1" } ] } }, { "isoform_ac": "E2QRP0-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLV", "length": 58, "header": "tr|E2QRP0-1|E2QRP0_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=4 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89982000, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396252.6", "url": "https://www.ensembl.org/id/ENST00000396252.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000379551.2", "url": "https://www.ensembl.org/id/ENSP00000379551.2" } ] } }, { "isoform_ac": "E5RGR7-1", "url": "", "sequence": { "sequence": "MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGG", "length": 164, "header": "tr|E5RGR7-1|NBN_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=8 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89981448, "end_pos": 89970522, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517772.5", "url": "https://www.ensembl.org/id/ENST00000517772.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428717.1", "url": "https://www.ensembl.org/id/ENSP00000428717.1" } ] } }, { "isoform_ac": "E5RGU1-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFSFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGG", "length": 159, "header": "tr|E5RGU1-1|E5RGU1_HUMAN Computationally mapped isoform of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89970519, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519426.5", "url": "https://www.ensembl.org/id/ENST00000519426.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430983.1", "url": "https://www.ensembl.org/id/ENSP00000430983.1" } ] } }, { "isoform_ac": "O60934-1", "url": "", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 754, "header": "sp|O60934-1|NBN_HUMAN Isoform 1 of Nibrin OS=Homo sapiens OX=9606 GN=NBN PE=1 SV=1 CANONICAL=O60934-1" }, "locus": { "chromosome": "8", "start_pos": 89984561, "end_pos": 89935585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697292.1", "url": "https://www.ensembl.org/id/ENST00000697292.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513229.1", "url": "https://www.ensembl.org/id/ENSP00000513229.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 213, "start_aa": "Ser", "end_pos": 213, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser213", "evidence": [ { "id": "O60934", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60934" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser104" }, { "start_pos": 278, "end_pos": 278, "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "10839544", "url": "https://glygen.org/publication/PubMed/10839544" }, { "database": "phospho.ELM", "id": "O60934", "url": "http://phospho.elm.eu.org/byAccession/O60934.html" }, { "database": "PubMed", "id": "15279770", "url": "https://glygen.org/publication/PubMed/15279770" }, { "database": "PubMed", "id": "12861053", "url": "https://glygen.org/publication/PubMed/12861053" } ], "site_lbl": "Ser278" }, { "start_pos": 278, "end_pos": 278, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ATM", "evidence": [ { "database": "UniProtKB", "id": "O60934", "url": "https://www.uniprot.org/uniprot/O60934" }, { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "10839544", "url": "https://glygen.org/publication/PubMed/10839544" }, { "database": "PubMed", "id": "14707289", "url": "https://glygen.org/publication/PubMed/14707289" }, { "database": "PubMed", "id": "24614819", "url": "https://glygen.org/publication/PubMed/24614819" }, { "database": "PubMed", "id": "25485873", "url": "https://glygen.org/publication/PubMed/25485873" }, { "database": "PubMed", "id": "28369484", "url": "https://glygen.org/publication/PubMed/28369484" } ], "site_lbl": "Ser278" }, { "start_pos": 336, "end_pos": 336, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr336" }, { "start_pos": 337, "end_pos": 337, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60934", "url": "https://www.uniprot.org/uniprot/O60934" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr337" }, { "start_pos": 341, "end_pos": 341, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser341" }, { "start_pos": 343, "end_pos": 343, "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "10608806", "url": "https://glygen.org/publication/PubMed/10608806" }, { "database": "PubMed", "id": "10839544", "url": "https://glygen.org/publication/PubMed/10839544" }, { "database": "PubMed", "id": "10839545", "url": "https://glygen.org/publication/PubMed/10839545" }, { "database": "PubMed", "id": "11252893", "url": "https://glygen.org/publication/PubMed/11252893" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "10766245", "url": "https://glygen.org/publication/PubMed/10766245" }, { "database": "phospho.ELM", "id": "O60934", "url": "http://phospho.elm.eu.org/byAccession/O60934.html" }, { "database": "PubMed", "id": "15279770", "url": "https://glygen.org/publication/PubMed/15279770" }, { "database": "PubMed", "id": "12861053", "url": "https://glygen.org/publication/PubMed/12861053" }, { "database": "PubMed", "id": "10802669", "url": "https://glygen.org/publication/PubMed/10802669" } ], "site_lbl": "Ser343" }, { "start_pos": 343, "end_pos": 343, "kinase_uniprot_canonical_ac": "Q13535-1", "kinase_gene_name": "ATR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "17526493", "url": "https://glygen.org/publication/PubMed/17526493" } ], "site_lbl": "Ser343" }, { "start_pos": 343, "end_pos": 343, "kinase_uniprot_canonical_ac": "Q99986-1", "kinase_gene_name": "VRK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "26869104", "url": "https://glygen.org/publication/PubMed/26869104" } ], "site_lbl": "Ser343" }, { "start_pos": 343, "end_pos": 343, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ATM", "evidence": [ { "database": "UniProtKB", "id": "O60934", "url": "https://www.uniprot.org/uniprot/O60934" }, { "database": "phospho.ELM", "id": "O60934", "url": "http://phospho.elm.eu.org/byAccession/O60934.html" }, { "database": "iPTMnet", "id": "O60934", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60934" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "11252893", "url": "https://glygen.org/publication/PubMed/11252893" }, { "database": "PubMed", "id": "10766245", "url": "https://glygen.org/publication/PubMed/10766245" }, { "database": "PubMed", "id": "10802669", "url": "https://glygen.org/publication/PubMed/10802669" }, { "database": "PubMed", "id": "10839544", "url": "https://glygen.org/publication/PubMed/10839544" }, { "database": "PubMed", "id": "10839545", "url": "https://glygen.org/publication/PubMed/10839545" }, { "database": "PubMed", "id": "14707289", "url": "https://glygen.org/publication/PubMed/14707289" }, { "database": "PubMed", "id": "15314656", "url": "https://glygen.org/publication/PubMed/15314656" }, { "database": "PubMed", "id": "17612497", "url": "https://glygen.org/publication/PubMed/17612497" }, { "database": "PubMed", "id": "17957789", "url": "https://glygen.org/publication/PubMed/17957789" }, { "database": "PubMed", "id": "18262646", "url": "https://glygen.org/publication/PubMed/18262646" }, { "database": "PubMed", "id": "19798429", "url": "https://glygen.org/publication/PubMed/19798429" }, { "database": "PubMed", "id": "23146902", "url": "https://glygen.org/publication/PubMed/23146902" }, { "database": "PubMed", "id": "24614819", "url": "https://glygen.org/publication/PubMed/24614819" }, { "database": 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