{ "uniprot_canonical_ac": "A2RRP1-1", "uniprot_ac": "A2RRP1", "uniprot_id": "NBAS_HUMAN", "mass": { "chemical_mass": 268571.0, "monoisotopic_mass": 268571.0 }, "refseq": { "ac": "NP_056993", "name": "NBAS subunit of NRZ tethering complex", "summary": "This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" }, "gene_names": [ { "name": "NBAS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1" }, { "name": "ILFS2; NAG; SOPH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "id": "NP_056993" }, { "name": "NAG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1" }, { "name": "NBAS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "id": "NP_056993" } ], "protein_names": [ { "name": "NBAS subunit of NRZ tethering complex", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A2RRP1" }, { "name": "NAG/BC035112 fusion; NAG/FAM49A fusion; neuroblastoma-amplified gene protein; neuroblastoma amplified sequence", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "id": "NP_056993" }, { "name": "NBAS subunit of NRZ tethering complex", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "id": "NP_056993" }, { "name": "Neuroblastoma-amplified gene protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A2RRP1" }, { "name": "Neuroblastoma-amplified sequence", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A2RRP1" } ], "function": [ { "annotation": "Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" }, { "database": "PubMed", "id": "33707149", "url": "https://glygen.org/publication/PubMed/33707149" } ] }, { "annotation": "Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal embryonic development (By similarity). May play a role in the nonsense-mediated decay pathway of mRNAs containing premature stop codons (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1#function" }, { "database": "PubMed", "id": "19369418", "url": "https://glygen.org/publication/PubMed/19369418" }, { "database": "UniProtKB", "id": "Q5TYW4", "url": "https://www.uniprot.org/uniprot/Q5TYW4#function" } ] }, { "annotation": "Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" }, { "database": "PubMed", "id": "36768954", "url": "https://glygen.org/publication/PubMed/36768954" } ] }, { "annotation": "NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" }, { "database": "PubMed", "id": "34386911", "url": "https://glygen.org/publication/PubMed/34386911" } ] }, { "annotation": "NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" }, { "database": "PubMed", "id": "35902954", "url": "https://glygen.org/publication/PubMed/35902954" } ] }, { "annotation": "Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" }, { "database": "PubMed", "id": "33542026", "url": "https://glygen.org/publication/PubMed/33542026" } ] }, { "annotation": "This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" } ] } ], "disease": [ { "disease_id": "MONDO:0013889", "recommended_name": { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome", "description": "" }, { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "soph syndrome", "description": "" }, { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "short stature with optic atrophy and Pelger-Hut anomaly syndrome", "description": "" }, { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "short stature, optic nerve atrophy, and Pelger-Huet anomaly", "description": "" }, { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "short stature-optic atrophy-Pelger-Hut anomaly syndrome", "description": "" }, { "id": "MONDO:0013889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013889", "name": "soph", "description": "" }, { "id": "MIM:614800", "resource": "MIM", "url": "https://www.omim.org/entry/614800", "name": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly", "description": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly" } ], "evidence": [ { "id": "614800", "database": "MIM", "url": "https://www.omim.org/entry/614800" } ] }, { "disease_id": "MONDO:0014659", "recommended_name": { "id": "MONDO:0014659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014659", "name": "infantile liver failure syndrome 2", "description": "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." }, "synonyms": [ { "id": "MONDO:0014659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014659", "name": "ILFS2", "description": "" }, { "id": "MONDO:0014659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014659", "name": "NBAS infantile liver failure", "description": "" }, { "id": "MONDO:0014659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014659", "name": "infantile liver failure caused by mutation in NBAS", "description": "" }, { "id": "MONDO:0014659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014659", "name": "infantile liver failure syndrome 2", "description": "" }, { "id": "MONDO:0014659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014659", "name": "infantile liver failure syndrome type 2", "description": "" }, { "id": "MIM:616483", "resource": "MIM", "url": "https://www.omim.org/entry/616483", "name": "Infantile liver failure syndrome 2", "description": "Infantile liver failure syndrome 2" } ], "evidence": [ { "id": "616483", "database": "MIM", "url": "https://www.omim.org/entry/616483" } ] } ], "snv": [ { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [], "start_pos": 1073, "end_pos": 1073, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "15394266", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1073", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs757665960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757665960" }, { "id": "rs757665960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757665960" }, { "id": "rs757665960", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757665960" }, { "id": "rs757665960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757665960#frequency_tab" }, { "id": "rs757665960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757665960" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1091, "end_pos": 1091, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "2", "chr_pos": "15287130", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 111, "end_pos": 111, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (IRS->NRS).", "chr_id": "2", "chr_pos": "15553429", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I111", "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "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": "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs577208192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577208192" }, { "id": "rs577208192", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577208192" }, { "id": "rs577208192", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577208192" }, { "id": "rs577208192", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577208192" }, { "id": "rs577208192", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577208192#frequency_tab" }, { "id": "rs577208192", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577208192" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 117, "end_pos": 117, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "2", "chr_pos": "15461289", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [], "start_pos": 1334, "end_pos": 1334, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "15353641", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1334", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1199205096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199205096" }, { "id": "rs1199205096", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1199205096#frequency_tab" }, { "id": "rs1199205096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199205096" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1357, "end_pos": 1357, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "2", "chr_pos": "15353572", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174168056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174168056" }, { "id": "rs1174168056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174168056" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1404, "end_pos": 1404, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NSS).", "chr_id": "2", "chr_pos": "15234672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174168056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174168056" }, { "id": "rs1174168056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174168056" }, { "id": "rs1268457533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268457533" }, { "id": "rs1268457533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268457533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1404, "end_pos": 1404, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "2", "chr_pos": "15234672", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437453124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437453124" }, { "id": "rs1437453124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437453124#frequency_tab" }, { "id": "rs1437453124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437453124" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1421, "end_pos": 1421, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "2", "chr_pos": "15330683", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1572668879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1572668879" }, { "id": "rs1572668879", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1572668879" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1439, "end_pos": 1439, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "2", "chr_pos": "15330628", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" }, { "id": "rs565228279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565228279" }, { "id": "rs565228279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565228279" }, { "id": "rs565228279", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565228279" }, { "id": "rs565228279", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565228279#frequency_tab" }, { "id": "rs565228279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565228279" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 143, "end_pos": 143, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "2", "chr_pos": "15539309", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D143", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1540, "end_pos": 1540, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "2", "chr_pos": "15309212", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1540", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1437588725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437588725" }, { "id": "rs1437588725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437588725" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1541, "end_pos": 1541, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDM->NDT).", "chr_id": "2", "chr_pos": "15309208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1563, "end_pos": 1563, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "2", "chr_pos": "15308324", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1563", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756163155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756163155" }, { "id": "rs756163155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756163155" }, { "id": "rs756163155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756163155" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1612, "end_pos": 1612, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HVT->NVT).", "chr_id": "2", "chr_pos": "15292730", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" }, { "id": "rs757665960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757665960" }, { "id": "rs757665960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757665960" }, { "id": "rs757665960", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757665960" }, { "id": "rs757665960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757665960#frequency_tab" }, { "id": "rs757665960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757665960" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1694, "end_pos": 1694, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "2", "chr_pos": "15287130", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1694", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1256946075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256946075" }, { "id": "rs1256946075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1256946075#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1723, "end_pos": 1723, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "2", "chr_pos": "15277073", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [], "start_pos": 1757, "end_pos": 1757, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "15276971", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1757", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772727676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772727676" }, { "id": "rs772727676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772727676" }, { "id": "rs772727676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772727676" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1778, "end_pos": 1778, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCA->NCT).", "chr_id": "2", "chr_pos": "15276908", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1778", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751941601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751941601" }, { "id": "rs751941601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751941601" }, { "id": "rs751941601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751941601" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1908, "end_pos": 1908, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "2", "chr_pos": "15275484", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1908", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754580352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754580352" }, { "id": "rs754580352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754580352" }, { "id": "rs754580352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754580352#frequency_tab" }, { "id": "rs754580352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754580352" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1922, "end_pos": 1922, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IKT->NKT).", "chr_id": "2", "chr_pos": "15238646", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1922", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751941818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751941818" }, { "id": "rs751941818", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751941818" }, { "id": "rs751941818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751941818#frequency_tab" }, { "id": "rs751941818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751941818" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 192, "end_pos": 192, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "2", "chr_pos": "15536489", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777142694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777142694" }, { "id": "rs777142694", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777142694" }, { "id": "rs777142694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777142694" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2030, "end_pos": 2030, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "2", "chr_pos": "15234603", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323025608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323025608" }, { "id": "rs1323025608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323025608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2196, "end_pos": 2196, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNP->NNT).", "chr_id": "2", "chr_pos": "15186867", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RRP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1" } ], "glycoeffect": [], "start_pos": 2225, "end_pos": 2225, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "15186780", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2225", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs376484930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376484930" }, { "id": "rs376484930", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376484930" }, { "id": "rs376484930", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376484930#frequency_tab" }, { "id": "rs376484930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376484930" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2359, "end_pos": 2359, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "2", "chr_pos": "15167088", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262214723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262214723" }, { "id": "rs1262214723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262214723" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 242, "end_pos": 242, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "2", "chr_pos": "15534565", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1245430793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245430793" }, { "id": "rs1245430793", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1245430793" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "2", "chr_pos": "15504180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760087517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760087517" }, { "id": "rs760087517", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760087517" }, { "id": "rs760087517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760087517#frequency_tab" }, { "id": "rs760087517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760087517" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "2", "chr_pos": "15504179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760087517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760087517" }, { "id": "rs760087517", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760087517" }, { "id": "rs760087517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760087517#frequency_tab" }, { "id": "rs760087517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760087517" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "2", "chr_pos": "15504179", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754488562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754488562" }, { "id": "rs754488562", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754488562" }, { "id": "rs754488562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754488562" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "2", "chr_pos": "15366622", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1167821309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1167821309" }, { "id": "rs1167821309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1167821309" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "2", "chr_pos": "15287148", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763472560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763472560" }, { "id": "rs763472560", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763472560" }, { "id": "rs763472560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763472560#frequency_tab" }, { "id": "rs763472560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763472560" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 455, "end_pos": 455, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "2", "chr_pos": "15275700", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1225879842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225879842" }, { "id": "rs1225879842", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225879842" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 574, "end_pos": 574, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLS->NLS).", "chr_id": "2", "chr_pos": "15473227", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479823236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479823236" }, { "id": "rs1479823236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1479823236#frequency_tab" }, { "id": "rs1479823236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479823236" }, { "id": "22610119", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22610119" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 637, "end_pos": 637, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "2", "chr_pos": "15467772", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S637", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs753412601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753412601" }, { "id": "rs753412601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753412601" }, { "id": "rs753412601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753412601" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 673, "end_pos": 673, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "2", "chr_pos": "15467407", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200532922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200532922" }, { "id": "rs200532922", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200532922" }, { "id": "rs200532922", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200532922#frequency_tab" }, { "id": "rs200532922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200532922" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 764, "end_pos": 764, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "2", "chr_pos": "15461250", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P764", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771882591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771882591" }, { "id": "rs771882591", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771882591" }, { "id": "rs771882591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771882591#frequency_tab" }, { "id": "rs771882591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771882591" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 766, "end_pos": 766, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "2", "chr_pos": "15417510", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T766", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216893226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216893226" }, { "id": "rs1216893226", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216893226" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 817, "end_pos": 817, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "2", "chr_pos": "15424443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D817", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "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": "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "common_name": "Human" } ], "gene": [ { "name": "NBAS", "url": "https://www.uniprot.org/uniprot/A2RRP1", "locus": { "chromosome": "2", "start_pos": 15166916, "end_pos": 15561340, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000151779", "url": "https://www.ensembl.org/id/ENSG00000151779" } ] } } ], "crossref": [ { "id": "ENSG00000151779", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A2RRP1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "NBAS", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBAS", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "51594", "url": "https://www.ncbi.nlm.nih.gov/gene/51594", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "15625", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15625", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A2RRP1", "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RRP1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011044", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011044", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013244", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013244", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029145", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029145", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:51594", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608025", "url": "http://www.omim.org/entry/608025", "database": "MIM", "categories": [ "Other" ] }, { "id": "614800", "url": "http://www.omim.org/entry/614800", "database": "MIM", "categories": [ "Other" ] }, { "id": "616483", "url": "http://www.omim.org/entry/616483", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A2RRP1", "url": "https://www.nextprot.org/entry/NX_A2RRP1", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A2RRP1", "url": "https://oglcnac.org/atlas/detail/A2RRP1", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "A2RRP1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RRP1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KHMLPAE", "url": "https://omabrowser.org/oma/group/KHMLPAE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "7541at2759", "url": "http://www.orthodb.org/?query=7541at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15922", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15922", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15922:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15922:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF08314", "url": "http://pfam.xfam.org/family/PF08314", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF15492", "url": "http://pfam.xfam.org/family/PF15492", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A2RRP1", "url": "https://pharos.nih.gov/targets/A2RRP1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A2RRP1", "url": "http://purl.obolibrary.org/obo/PR_A2RRP1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8V8TP87", "url": "https://www.uniprot.org/uniprot/A0A8V8TP87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TP87-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TP87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPL8", "url": "https://www.uniprot.org/uniprot/A0A8V8TPL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPL8-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPS6", "url": "https://www.uniprot.org/uniprot/A0A8V8TPS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPS6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPT1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPT1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPT1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQK6", "url": "https://www.uniprot.org/uniprot/A0A8V8TQK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQK6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQX6", "url": "https://www.uniprot.org/uniprot/A0A8V8TQX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQX6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQY0", "url": "https://www.uniprot.org/uniprot/A0A8V8TQY0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQY0-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQY0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2RRP1-1", "url": "https://www.uniprot.org/uniprot/A2RRP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2RRP1-2", "url": "https://www.uniprot.org/uniprot/A2RRP1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5G7", "url": "https://www.uniprot.org/uniprot/H0Y5G7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5G7-1", "url": "https://www.uniprot.org/uniprot/H0Y5G7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZR3", "url": "https://www.uniprot.org/uniprot/H7BZR3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZR3-1", "url": "https://www.uniprot.org/uniprot/H7BZR3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZU5", "url": "https://www.uniprot.org/uniprot/H7BZU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZU5-1", "url": "https://www.uniprot.org/uniprot/H7BZU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1U4", "url": "https://www.uniprot.org/uniprot/H7C1U4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1U4-1", "url": "https://www.uniprot.org/uniprot/H7C1U4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1Y9", "url": "https://www.uniprot.org/uniprot/H7C1Y9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1Y9-1", "url": "https://www.uniprot.org/uniprot/H7C1Y9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 2371, "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TP87-1", "url": "", "sequence": { "sequence": "XRLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 542, "header": "tr|A0A8V8TP87-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15276969, "end_pos": 15167049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700063.1", "url": "https://www.ensembl.org/id/ENST00000700063.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514778.1", "url": "https://www.ensembl.org/id/ENSP00000514778.1" } ] } }, { "isoform_ac": "A0A8V8TPL8-1", "url": "", "sequence": { "sequence": "XASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAELPCLQTFKKIHDSSECLRDSCCCSWDLLTYGHDGFPDGKYYQQDE", "length": 901, "header": "tr|A0A8V8TPL8-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15352026, "end_pos": 15182787, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700064.1", "url": "https://www.ensembl.org/id/ENST00000700064.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514779.1", "url": "https://www.ensembl.org/id/ENSP00000514779.1" } ] } }, { "isoform_ac": "A0A8V8TPS6-1", "url": "", "sequence": { "sequence": "XDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLADLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 1700, "header": "tr|A0A8V8TPS6-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15467778, "end_pos": 15167050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700061.1", "url": "https://www.ensembl.org/id/ENST00000700061.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514776.1", "url": "https://www.ensembl.org/id/ENSP00000514776.1" } ] } }, { "isoform_ac": "A0A8V8TPT1-1", "url": "", "sequence": { "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFS", "length": 629, "header": "tr|A0A8V8TPT1-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15561304, "end_pos": 15467666, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700069.1", "url": "https://www.ensembl.org/id/ENST00000700069.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514781.1", "url": "https://www.ensembl.org/id/ENSP00000514781.1" } ] } }, { "isoform_ac": "A0A8V8TQK6-1", "url": "", "sequence": { "sequence": "MGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSVGFILTSFLNILKHFLCTLIHMCLKPKMKCSTDLRS", "length": 796, "header": "tr|A0A8V8TQK6-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15539252, "end_pos": 15417419, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700066.1", "url": "https://www.ensembl.org/id/ENST00000700066.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514780.1", "url": "https://www.ensembl.org/id/ENSP00000514780.1" } ] } }, { "isoform_ac": "A0A8V8TQX6-1", "url": "", "sequence": { "sequence": "XDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAETGSHYVAHAGFELLGSSNSPVAASQSVGIAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKG", "length": 1476, "header": "tr|A0A8V8TQX6-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15467778, "end_pos": 15190402, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700062.1", "url": "https://www.ensembl.org/id/ENST00000700062.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514777.1", "url": "https://www.ensembl.org/id/ENSP00000514777.1" } ] } }, { "isoform_ac": "A0A8V8TQY0-1", "url": "", "sequence": { "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQGSQSFAQAGVQWHDHGSLQTQPPGLR", "length": 152, "header": "tr|A0A8V8TQY0-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15561304, "end_pos": 15549644, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700070.1", "url": "https://www.ensembl.org/id/ENST00000700070.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514782.1", "url": "https://www.ensembl.org/id/ENSP00000514782.1" } ] } }, { "isoform_ac": "A2RRP1-1", "url": "", "sequence": { "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 2371, "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15561304, "end_pos": 15167051, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000281513.10", "url": "https://www.ensembl.org/id/ENST00000281513.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000281513.5", "url": "https://www.ensembl.org/id/ENSP00000281513.5" } ] } }, { "isoform_ac": "A2RRP1-2", "url": "", "sequence": { "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 2251, "header": "sp|A2RRP1-2|NBAS_HUMAN Isoform 2 of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1" }, "locus": {} }, { "isoform_ac": "H0Y5G7-1", "url": "", "sequence": { "sequence": "XMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 1419, "header": "tr|H0Y5G7-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15424394, "end_pos": 15167050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442506.5", "url": "https://www.ensembl.org/id/ENST00000442506.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398411.1", "url": "https://www.ensembl.org/id/ENSP00000398411.1" } ] } }, { "isoform_ac": "H7BZR3-1", "url": "", "sequence": { "sequence": "VDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV", "length": 184, "header": "tr|H7BZR3-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15190403, "end_pos": 15167051, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433283.5", "url": "https://www.ensembl.org/id/ENST00000433283.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390920.1", "url": "https://www.ensembl.org/id/ENSP00000390920.1" } ] } }, { "isoform_ac": "H7BZU5-1", "url": "", "sequence": { "sequence": "XKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRNLFTTSLSVDIWVILSFGFYK", "length": 204, "header": "tr|H7BZU5-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15417581, "end_pos": 15393665, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429842.1", "url": "https://www.ensembl.org/id/ENST00000429842.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391476.1", "url": "https://www.ensembl.org/id/ENSP00000391476.1" } ] } }, { "isoform_ac": "H7C1U4-1", "url": "", "sequence": { "sequence": "XASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQVLD", "length": 100, "header": "tr|H7C1U4-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15511303, "end_pos": 15483359, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427792.1", "url": "https://www.ensembl.org/id/ENST00000427792.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402458.1", "url": "https://www.ensembl.org/id/ENSP00000402458.1" } ] } }, { "isoform_ac": "H7C1Y9-1", "url": "", "sequence": { "sequence": "IADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTDIF", "length": 137, "header": "tr|H7C1Y9-1|NBAS_HUMAN Computationally mapped isoform of NBAS subunit of NRZ tethering complex OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1" }, "locus": { "chromosome": "2", "start_pos": 15190397, "end_pos": 15178149, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423602.1", "url": "https://www.ensembl.org/id/ENST00000423602.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000403119.1", "url": "https://www.ensembl.org/id/ENSP00000403119.1" } ] } } ], "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": 307, "start_aa": "Ser", "end_pos": 307, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser307", "evidence": [ { "id": "A2RRP1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RRP1" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "A2RRP1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2RRP1" } ] } ], "phosphorylation": [ { "start_pos": 2052, "end_pos": 2052, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2052" }, { "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "A2RRP1", "url": "http://phospho.elm.eu.org/byAccession/A2RRP1.html" } ], "site_lbl": "Ser473" }, { "start_pos": 475, "end_pos": 475, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "A2RRP1", "url": "http://phospho.elm.eu.org/byAccession/A2RRP1.html" } ], "site_lbl": "Ser475" }, { "start_pos": 511, "end_pos": 511, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr511" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10052452", "url": "https://glygen.org/publication/PubMed/10052452" } ] }, { "title": "GTP-dependent binding of ADP-ribosylation factor to coatomer in close proximity to the binding site for dilysine retrieval motifs and p23.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zhao L, Helms JB, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10318838", "url": "https://glygen.org/publication/PubMed/10318838" } ] }, { "title": "NSF N-terminal domain crystal structure: models of NSF function.", "journal": "Molecular cell", "date": "1999", "authors": "Yu RC, Jahn R, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.", "journal": "Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "Decoding of sorting signals by coatomer through a GTPase switch in the COPI coat complex.", "journal": "Cell", "date": "2000", "authors": "Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "title": "Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.", "journal": "J. Med. Genet.", "date": "2000", "authors": "Fr\u00fchwald M C, O'Dorisio M S, Rush L J, Reiter J L, Smiraglia D J, Wenger G, Costello J F, White P S, Krahe R, Brodeur G M, Plass C", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "10882752", "url": "https://glygen.org/publication/PubMed/10882752" } ] }, { "title": "COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP.", "journal": "The EMBO journal", "date": "2000", "authors": "Eugster A, Frigerio G, Dale M, Duden R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10921873", "url": "https://glygen.org/publication/PubMed/10921873" } ] }, { "title": "Functional characterization of novel human ARFGAP3.", "journal": "FEBS letters", "date": "2001", "authors": "Liu X, Zhang C, Xing G, Chen Q, He F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11172815", "url": "https://glygen.org/publication/PubMed/11172815" } ] }, { "title": "The coatomer-interacting protein Dsl1p is required for Golgi-to-endoplasmic reticulum retrieval in yeast.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Andag U, Neumann T, Schmitt HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11493604", "url": "https://glygen.org/publication/PubMed/11493604" } ] }, { "title": "Chimaerins, novel non-protein kinase C phorbol ester receptors, associate with Tmp21-I (p23): evidence for a novel anchoring mechanism involving the chimaerin C1 domain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wang H, Kazanietz MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11689559", "url": "https://glygen.org/publication/PubMed/11689559" } ] }, { "title": "KDEL-cargo regulates interactions between proteins involved in COPI vesicle traffic: measurements in living cells using FRET.", "journal": "Developmental cell", "date": "2001", "authors": "Majoul I, Straub M, Hell SW, Duden R, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11703931", "url": "https://glygen.org/publication/PubMed/11703931" } ] }, { "title": "Recruitment to Golgi membranes of ADP-ribosylation factor 1 is mediated by the cytoplasmic domain of p23.", "journal": "The EMBO journal", "date": "2001", "authors": "Gommel DU, Memon AR, Heiss A, Lottspeich F, Pfannstiel J, Lechner J, Reinhard C, Helms JB, Nickel W, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11726511", "url": "https://glygen.org/publication/PubMed/11726511" } ] }, { "title": "Golgi-to-endoplasmic reticulum (ER) retrograde traffic in yeast requires Dsl1p, a component of the ER target site that interacts with a COPI coat subunit.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Reilly BA, Kraynack BA, VanRheenen SM, Waters MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11739780", "url": "https://glygen.org/publication/PubMed/11739780" } ] }, { "title": "Sorting of Golgi resident proteins into different subpopulations of COPI vesicles: a role for ArfGAP1.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Lanoix J, Ouwendijk J, Stark A, Szafer E, Cassel D, Dejgaard K, Weiss M, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11748249", "url": "https://glygen.org/publication/PubMed/11748249" } ] }, { "title": "GBF1, a guanine nucleotide exchange factor for ADP-ribosylation factors, is localized to the cis-Golgi and involved in membrane association of the COPI coat.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2002", "authors": "Kawamoto K, Yoshida Y, Tamaki H, Torii S, Shinotsuka C, Yamashina S, Nakayama K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "12047556", "url": "https://glygen.org/publication/PubMed/12047556" } ] }, { "title": "Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Muller JM, Shorter J, Newman R, Deinhardt K, Sagiv Y, Elazar Z, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "12070132", "url": "https://glygen.org/publication/PubMed/12070132" } ] }, { "title": "The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma.", "journal": "Gene", "date": "2003", "authors": "Scott D K, Board J R, Lu X, Pearson A D J, Kenyon R M, Lunec J", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "12706883", "url": "https://glygen.org/publication/PubMed/12706883" } ] }, { "title": "Dsl1p, an essential component of the Golgi-endoplasmic reticulum retrieval system in yeast, uses the same sequence motif to interact with different subunits of the COPI vesicle coat.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Andag U, Schmitt HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "14504276", "url": "https://glygen.org/publication/PubMed/14504276" } ] }, { "title": "Lipid packing sensed by ArfGAP1 couples COPI coat disassembly to membrane bilayer curvature.", "journal": "Nature", "date": "2003", "authors": "Bigay J, Gounon P, Robineau S, Antonny B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "14654841", "url": "https://glygen.org/publication/PubMed/14654841" } ] }, { "title": "Implication of ZW10 in membrane trafficking between the endoplasmic reticulum and Golgi.", "journal": "The EMBO journal", "date": "2004", "authors": "Hirose H, Arasaki K, Dohmae N, Takio K, Hatsuzawa K, Nagahama M, Tani K, Yamamoto A, Tohyama M, Tagaya M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "15029241", "url": "https://glygen.org/publication/PubMed/15029241" } ] }, { "title": "Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.", "journal": "Journal of structural biology", "date": "2004", "authors": "Whiteheart SW, Matveeva EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "15037235", "url": "https://glygen.org/publication/PubMed/15037235" } ] }, { "title": "Involvement of BNIP1 in apoptosis and endoplasmic reticulum membrane fusion.", "journal": "The EMBO journal", "date": "2004", "authors": "Nakajima K, Hirose H, Taniguchi M, Kurashina H, Arasaki K, Nagahama M, Tani K, Yamamoto A, Tagaya M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "15272311", "url": "https://glygen.org/publication/PubMed/15272311" } ] }, { "title": "Dynamics of GBF1, a Brefeldin A-sensitive Arf1 exchange factor at the Golgi.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Niu TK, Pfeifer AC, Lippincott-Schwartz J, Jackson CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "15616190", "url": "https://glygen.org/publication/PubMed/15616190" } ] }, { "title": "Live imaging of bidirectional traffic from the ERGIC.", "journal": "Journal of cell science", "date": "2005", "authors": "Ben-Tekaya H, Miura K, Pepperkok R, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "15632110", "url": "https://glygen.org/publication/PubMed/15632110" } ] }, { "title": "Dissection of membrane dynamics of the ARF-guanine nucleotide exchange factor GBF1.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2005", "authors": "Szul T, Garcia-Mata R, Brandon E, Shestopal S, Alvarez C, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "15813748", "url": "https://glygen.org/publication/PubMed/15813748" } ] }, { "title": "Isoform-selective effects of the depletion of ADP-ribosylation factors 1-5 on membrane traffic.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Volpicelli-Daley LA, Li Y, Zhang CJ, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "16030262", "url": "https://glygen.org/publication/PubMed/16030262" } ] }, { "title": "ADP-ribosylation factor, a small GTP-binding protein, is required for binding of the coatomer protein beta-COP to Golgi membranes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Donaldson JG, Cassel D, Kahn RA, Klausner RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "1631136", "url": "https://glygen.org/publication/PubMed/1631136" } ] }, { "title": "RINT-1 regulates the localization and entry of ZW10 to the syntaxin 18 complex.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Arasaki K, Taniguchi M, Tani K, Tagaya M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "16571679", "url": "https://glygen.org/publication/PubMed/16571679" } ] }, { "title": "ARF proteins: roles in membrane traffic and beyond.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "D'Souza-Schorey C, Chavrier P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "16633337", "url": "https://glygen.org/publication/PubMed/16633337" } ] }, { "title": "ADP-ribosylation factor is a subunit of the coat of Golgi-derived COP-coated vesicles: a novel role for a GTP-binding protein.", "journal": "Cell", "date": "1991", "authors": "Serafini T, Orci L, Amherdt M, Brunner M, Kahn RA, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "1680566", "url": "https://glygen.org/publication/PubMed/1680566" } ] }, { "title": "SNAREs--engines for membrane fusion.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "Jahn R, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "16912714", "url": "https://glygen.org/publication/PubMed/16912714" } ] }, { "title": "GBF1, a cis-Golgi and VTCs-localized ARF-GEF, is implicated in ER-to-Golgi protein traffic.", "journal": "Journal of cell science", "date": "2006", "authors": "Zhao X, Claude A, Chun J, Shields DJ, Presley JF, Melancon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "16926190", "url": "https://glygen.org/publication/PubMed/16926190" } ] }, { "title": "Coatomer, the coat protein of COPI transport vesicles, discriminates endoplasmic reticulum residents from p24 proteins.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Bethune J, Kol M, Hoffmann J, Reckmann I, Brugger B, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "16940185", "url": "https://glygen.org/publication/PubMed/16940185" } ] }, { "title": "A role for kinesin-2 in COPI-dependent recycling between the ER and the Golgi complex.", "journal": "Current biology : CB", "date": "2006", "authors": "Stauber T, Simpson JC, Pepperkok R, Vernos I", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17113389", "url": "https://glygen.org/publication/PubMed/17113389" } ] }, { "title": "Two lipid-packing sensor motifs contribute to the sensitivity of ArfGAP1 to membrane curvature.", "journal": "Biochemistry", "date": "2007", "authors": "Mesmin B, Drin G, Levi S, Rawet M, Cassel D, Bigay J, Antonny B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17253781", "url": "https://glygen.org/publication/PubMed/17253781" } ] }, { "title": "Differential localization of coatomer complex isoforms within the Golgi apparatus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Moelleken J, Malsam J, Betts MJ, Movafeghi A, Reckmann I, Meissner I, Hellwig A, Russell RB, Sollner T, Brugger B, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17360540", "url": "https://glygen.org/publication/PubMed/17360540" } ] }, { "title": "Rab1b interacts with GBF1 and modulates both ARF1 dynamics and COPI association.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Monetta P, Slavin I, Romero N, Alvarez C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17429068", "url": "https://glygen.org/publication/PubMed/17429068" } ] }, { "title": "Multiple and stepwise interactions between coatomer and ADP-ribosylation factor-1 (Arf1)-GTP.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Sun Z, Anderl F, Frohlich K, Zhao L, Hanke S, Brugger B, Wieland F, Bethune J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17451557", "url": "https://glygen.org/publication/PubMed/17451557" } ] }, { "title": "Two human ARFGAPs associated with COP-I-coated vesicles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Frigerio G, Grimsey N, Dale M, Majoul I, Duden R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17760859", "url": "https://glygen.org/publication/PubMed/17760859" } ] }, { "title": "Mammalian GPI-anchored proteins require p24 proteins for their efficient transport from the ER to the plasma membrane.", "journal": "The Biochemical journal", "date": "2008", "authors": "Takida S, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17927562", "url": "https://glygen.org/publication/PubMed/17927562" } ] }, { "title": "Dissecting the role of the ARF guanine nucleotide exchange factor GBF1 in Golgi biogenesis and protein trafficking.", "journal": "Journal of cell science", "date": "2007", "authors": "Szul T, Grabski R, Lyons S, Morohashi Y, Shestopal S, Lowe M, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "17956946", "url": "https://glygen.org/publication/PubMed/17956946" } ] }, { "title": "A conformational change in the alpha-subunit of coatomer induced by ligand binding to gamma-COP revealed by single-pair FRET.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2008", "authors": "Langer JD, Roth CM, Bethune J, Stoops EH, Brugger B, Herten DP, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "18182008", "url": "https://glygen.org/publication/PubMed/18182008" } ] }, { "title": "The cargo receptors Surf4, endoplasmic reticulum-Golgi intermediate compartment (ERGIC)-53, and p25 are required to maintain the architecture of ERGIC and Golgi.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Mitrovic S, Ben-Tekaya H, Koegler E, Gruenberg J, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "18287528", "url": "https://glygen.org/publication/PubMed/18287528" } ] }, { "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "date": "2008", "authors": "Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Characterization of class I and II ADP-ribosylation factors (Arfs) in live cells: GDP-bound class II Arfs associate with the ER-Golgi intermediate compartment independently of GBF1.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Chun J, Shapovalova Z, Dejgaard SY, Presley JF, Melancon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "18524849", "url": "https://glygen.org/publication/PubMed/18524849" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "iPTMnet", "id": "A2RRP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Consensus nomenclature for the human ArfGAP domain-containing proteins.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Kahn RA, Bruford E, Inoue H, Logsdon JM Jr, Nie Z, Premont RT, Randazzo PA, Satake M, Theibert AB, Zapp ML, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "18809720", "url": "https://glygen.org/publication/PubMed/18809720" } ] }, { "title": "'Coatomer': a cytosolic protein complex containing subunits of non-clathrin-coated Golgi transport vesicles.", "journal": "Nature", "date": "1991", "authors": "Waters MG, Serafini T, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "1898986", "url": "https://glygen.org/publication/PubMed/1898986" } ] }, { "title": "Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Weimer C, Beck R, Eckert P, Reckmann I, Moelleken J, Brugger B, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19015319", "url": "https://glygen.org/publication/PubMed/19015319" } ] }, { "title": "Discrete determinants in ArfGAP2/3 conferring Golgi localization and regulation by the COPI coat.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Kliouchnikov L, Bigay J, Mesmin B, Parnis A, Rawet M, Goldfeder N, Antonny B, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19109418", "url": "https://glygen.org/publication/PubMed/19109418" } ] }, { "title": "Structural characterization of Tip20p and Dsl1p, subunits of the Dsl1p vesicle tethering complex.", "journal": "Nature structural & molecular biology", "date": "2009", "authors": "Tripathi A, Ren Y, Jeffrey PD, Hughson FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19151722", "url": "https://glygen.org/publication/PubMed/19151722" } ] }, { "title": "Membrane fusion: grappling with SNARE and SM proteins.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Sudhof TC, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19164740", "url": "https://glygen.org/publication/PubMed/19164740" } ] }, { "title": "Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Aoki T, Ichimura S, Itoh A, Kuramoto M, Shinkawa T, Isobe T, Tagaya M", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19369418", "url": "https://glygen.org/publication/PubMed/19369418" } ] }, { "title": "Binding of ARF and beta-COP to Golgi membranes: possible regulation by a trimeric G protein.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Donaldson JG, Kahn RA, Lippincott-Schwartz J, Klausner RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "1957170", "url": "https://glygen.org/publication/PubMed/1957170" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "The COPI system: molecular mechanisms and function.", "journal": "FEBS letters", "date": "2009", "authors": "Beck R, Rawet M, Wieland FT, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19631211", "url": "https://glygen.org/publication/PubMed/19631211" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A link between ER tethering and COP-I vesicle uncoating.", "journal": "Developmental cell", "date": "2009", "authors": "Zink S, Wenzel D, Wurm CA, Schmitt HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "19758564", "url": "https://glygen.org/publication/PubMed/19758564" } ] }, { "title": "A structure-based mechanism for vesicle capture by the multisubunit tethering complex Dsl1.", "journal": "Cell", "date": "2009", "authors": "Ren Y, Yip CK, Tripathi A, Huie D, Jeffrey PD, Walz T, Hughson FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20005805", "url": "https://glygen.org/publication/PubMed/20005805" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Regulation of ER-Golgi intermediate compartment tubulation and mobility by COPI coats, motor proteins and microtubules.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Tomas M, Martinez-Alonso E, Ballesta J, Martinez-Menarguez JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20136777", "url": "https://glygen.org/publication/PubMed/20136777" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "A2RRP1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Arf3 is activated uniquely at the trans-Golgi network by brefeldin A-inhibited guanine nucleotide exchange factors.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Manolea F, Chun J, Chen DW, Clarke I, Summerfeldt N, Dacks JB, Melancon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20357002", "url": "https://glygen.org/publication/PubMed/20357002" } ] }, { "title": "Selective export of human GPI-anchored proteins from the endoplasmic reticulum.", "journal": "Journal of cell science", "date": "2010", "authors": "Bonnon C, Wendeler MW, Paccaud JP, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20427317", "url": "https://glygen.org/publication/PubMed/20427317" } ] }, { "title": "Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery.", "journal": "Structure", "date": "2010", "authors": "Civril F, Wehenkel A, Giorgi FM, Santaguida S, Di Fonzo A, Grigorean G, Ciccarelli FD, Musacchio A", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20462495", "url": "https://glygen.org/publication/PubMed/20462495" } ] }, { "title": "Crystal structure of alpha-COP in complex with epsilon-COP provides insight into the architecture of the COPI vesicular coat.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Hsia KC, Hoelz A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20534429", "url": "https://glygen.org/publication/PubMed/20534429" } ] }, { "title": "Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.", "journal": "Journal of medical genetics", "date": "2010", "authors": "Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "20577004", "url": "https://glygen.org/publication/PubMed/20577004" } ] }, { "title": "Models for the functions of Arf GAPs.", "journal": "Seminars in cell & developmental biology", "date": "2011", "authors": "East MP, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "20637885", "url": "https://glygen.org/publication/PubMed/20637885" } ] }, { "title": "Proteinase-activated receptors, nucleotide P2Y receptors, and mu-opioid receptor-1B are under the control of the type I transmembrane proteins p23 and p24A in post-Golgi trafficking.", "journal": "Journal of neurochemistry", "date": "2011", "authors": "Luo W, Wang Y, Reiser G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "21219331", "url": "https://glygen.org/publication/PubMed/21219331" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "The Dsl1 protein tethering complex is a resident endoplasmic reticulum complex, which interacts with five soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptors (SNAREs): implications for fusion and fusion regulation.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Meiringer CT, Rethmeier R, Auffarth K, Wilson J, Perz A, Barlowe C, Schmitt HD, Ungermann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "21550981", "url": "https://glygen.org/publication/PubMed/21550981" } ] }, { "title": "Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF).", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Zhao C, Smith EC, Whiteheart SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "21689688", "url": "https://glygen.org/publication/PubMed/21689688" } ] }, { "title": "COPI budding within the Golgi stack.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2011", "authors": "Popoff V, Adolf F, Brugger B, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "21844168", "url": "https://glygen.org/publication/PubMed/21844168" } ] }, { "title": "COPII and COPI traffic at the ER-Golgi interface.", "journal": "Physiology (Bethesda, Md.)", "date": "2011", "authors": "Szul T, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "22013193", "url": "https://glygen.org/publication/PubMed/22013193" } ] }, { "title": "p24 proteins are required for secretion of Wnt ligands.", "journal": "EMBO reports", "date": "2011", "authors": "Buechling T, Chaudhary V, Spirohn K, Weiss M, Boutros M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "22094269", "url": "https://glygen.org/publication/PubMed/22094269" } ] }, { "title": "A structure-based mechanism for Arf1-dependent recruitment of coatomer to membranes.", "journal": "Cell", "date": "2012", "authors": "Yu X, Breitman M, Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "22304919", "url": "https://glygen.org/publication/PubMed/22304919" } ] }, { "title": "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.", "journal": "Nature genetics", "date": "2012", "authors": "Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA", "evidence": [ { "database": "dbSNP", "id": "rs1479823236", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479823236" } ], "reference": [ { "type": "PubMed", "id": "22610119", "url": "https://glygen.org/publication/PubMed/22610119" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Secretory protein biogenesis and traffic in the early secretory pathway.", "journal": "Genetics", "date": "2013", "authors": "Barlowe CK, Miller EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "23396477", "url": "https://glygen.org/publication/PubMed/23396477" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "iPTMnet", "id": "A2RRP1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Moonlighting functions of the NRZ (mammalian Dsl1) complex.", "journal": "Frontiers in cell and developmental biology", "date": "2014", "authors": "Tagaya M, Arasaki K, Inoue H, Kimura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "25364732", "url": "https://glygen.org/publication/PubMed/25364732" } ] }, { "title": "Diverse roles for the p24 family of proteins in eukaryotic cells.", "journal": "Biomolecular concepts", "date": "2012", "authors": "Schuiki I, Volchuk A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "25436559", "url": "https://glygen.org/publication/PubMed/25436559" } ] }, { "title": "Three alphaSNAP and 10 ATP molecules are used in SNARE complex disassembly by N-ethylmaleimide-sensitive factor (NSF).", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shah N, Colbert KN, Enos MD, Herschlag D, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "25492864", "url": "https://glygen.org/publication/PubMed/25492864" } ] }, { "title": "Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.", "journal": "American journal of human genetics", "date": "2015", "authors": "Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "26073778", "url": "https://glygen.org/publication/PubMed/26073778" } ] }, { "title": "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.", "journal": "American journal of medical genetics. Part A", "date": "2015", "authors": "Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafe L", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "26286438", "url": "https://glygen.org/publication/PubMed/26286438" } ] }, { "title": "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.", "journal": "Bone", "date": "2017", "authors": "Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D, Parker MJ, Hide W, Skerry TM", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" }, { "database": "Entrez", "id": "51594", "url": "https://www.ncbi.nlm.nih.gov/gene/51594" } ], "reference": [ { "type": "PubMed", "id": "27789416", "url": "https://glygen.org/publication/PubMed/27789416" } ] }, { "title": "Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.", "journal": "European journal of medical genetics", "date": "2017", "authors": "Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venancio M, Casanova JL, Goncalves I, Jouanguy E, Diogo L", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "28576691", "url": "https://glygen.org/publication/PubMed/28576691" } ] }, { "title": "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.", "journal": "BMC gastroenterology", "date": "2017", "authors": "Li JQ, Qiu YL, Gong JY, Dou LM, Lu Y, Knisely AS, Zhang MH, Luan WS, Wang JS", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "28629372", "url": "https://glygen.org/publication/PubMed/28629372" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "A2RRP1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RRP1" }, { "database": "O-GlcNAc Atlas", "id": "A2RRP1", "url": "https://oglcnac.org/atlas/detail/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.", "journal": "Human mutation", "date": "2019", "authors": "Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "30825388", "url": "https://glygen.org/publication/PubMed/30825388" } ] }, { "title": "Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.", "journal": "Archives de pediatrie : organe officiel de la Societe francaise de pediatrie", "date": "2020", "authors": "Chavany J, Cano A, Roquelaure B, Bourgeois P, Boubnova J, Gaignard P, Hoebeke C, Reynaud R, Rhomer B, Slama A, Badens C, Chabrol B, Fabre A", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "32146038", "url": "https://glygen.org/publication/PubMed/32146038" } ] }, { "title": "Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.", "journal": "BMJ case reports", "date": "2021", "authors": "Krishnan S, Rughani A, Tsai A, Palle S", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" } ], "reference": [ { "type": "PubMed", "id": "33542026", "url": "https://glygen.org/publication/PubMed/33542026" } ] }, { "title": "Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.", "journal": "Molecular genetics and metabolism", "date": "2021", "authors": "Cotrina-Vinagre FJ, Rodriguez-Garcia ME, Martin-Hernandez E, Duran-Aparicio C, Merino-Lopez A, Medina-Benitez E, Martinez-Azorin F", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" } ], "reference": [ { "type": "PubMed", "id": "33707149", "url": "https://glygen.org/publication/PubMed/33707149" } ] }, { "title": "NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.", "journal": "Journal of clinical immunology", "date": "2021", "authors": "Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A, Distelmaier F, Gujar J, Indolfi G, Lurz E, Peters B, Schwerd T, Serranti D, Kolker S, Klein C, Hoffmann GF, Prokisch H, Greil J, Cerwenka A, Giese T, Staufner C", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" } ], "reference": [ { "type": "PubMed", "id": "34386911", "url": "https://glygen.org/publication/PubMed/34386911" } ] }, { "title": "NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.", "journal": "Journal of hematology & oncology", "date": "2022", "authors": "Bi X, Zhang Q, Chen L, Liu D, Li Y, Zhao X, Zhang Y, Zhang L, Liu J, Wu C, Li Z, Zhao Y, Ma H, Huang G, Liu X, Wang QF, Zhang R", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" } ], "reference": [ { "type": "PubMed", "id": "35902954", "url": "https://glygen.org/publication/PubMed/35902954" } ] }, { "title": "Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection.", "journal": "International journal of molecular sciences", "date": "2023-01-30", "authors": "Granata Valentina, Pagani Isabel, Morenghi Emanuela, Schiavone Maria Lucia, Lezzi Alessandra, Ghezzi Silvia, Vicenzi Elisa, Poli Guido, Sobacchi Cristina", "evidence": [ { "database": "RefSeq", "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993" } ], "reference": [ { "type": "PubMed", "id": "36768954", "url": "https://glygen.org/publication/PubMed/36768954" } ] }, { "title": "Kinesin is the motor for microtubule-mediated Golgi-to-ER membrane traffic.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Lippincott-Schwartz J, Cole NB, Marotta A, Conrad PA, Bloom GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "7844144", "url": "https://glygen.org/publication/PubMed/7844144" } ] }, { "title": "Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum.", "journal": "Cell", "date": "1994", "authors": "Letourneur F, Gaynor EC, Hennecke S, Demolliere C, Duden R, Emr SD, Riezman H, Cosson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8001155", "url": "https://glygen.org/publication/PubMed/8001155" } ] }, { "title": "Coatomer interaction with di-lysine endoplasmic reticulum retention motifs.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Cosson P, Letourneur F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8128252", "url": "https://glygen.org/publication/PubMed/8128252" } ] }, { "title": "En bloc incorporation of coatomer subunits during the assembly of COP-coated vesicles.", "journal": "The Journal of cell biology", "date": "1994", "authors": "Hara-Kuge S, Kuge O, Orci L, Amherdt M, Ravazzola M, Wieland FT, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8132710", "url": "https://glygen.org/publication/PubMed/8132710" } ] }, { "title": "A protein assembly-disassembly pathway in vitro that may correspond to sequential steps of synaptic vesicle docking, activation, and fusion.", "journal": "Cell", "date": "1993", "authors": "Sollner T, Bennett MK, Whiteheart SW, Scheller RH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8221884", "url": "https://glygen.org/publication/PubMed/8221884" } ] }, { "title": "Hydrolysis of bound GTP by ARF protein triggers uncoating of Golgi-derived COP-coated vesicles.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Tanigawa G, Orci L, Amherdt M, Ravazzola M, Helms JB, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8253837", "url": "https://glygen.org/publication/PubMed/8253837" } ] }, { "title": "Binding of coatomer to Golgi membranes requires ADP-ribosylation factor.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Palmer DJ, Helms JB, Beckers CJ, Orci L, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8505331", "url": "https://glygen.org/publication/PubMed/8505331" } ] }, { "title": "Sec18p (NSF)-driven release of Sec17p (alpha-SNAP) can precede docking and fusion of yeast vacuoles.", "journal": "Cell", "date": "1996", "authors": "Mayer A, Wickner W, Haas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "8620540", "url": "https://glygen.org/publication/PubMed/8620540" } ] }, { "title": "Direct and GTP-dependent interaction of ADP ribosylation factor 1 with coatomer subunit beta.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Zhao L, Helms JB, Brugger B, Harter C, Martoglio B, Graf R, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9114004", "url": "https://glygen.org/publication/PubMed/9114004" } ] }, { "title": "Assembly and disassembly of a ternary complex of synaptobrevin, syntaxin, and SNAP-25 in the membrane of synaptic vesicles.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Otto H, Hanson PI, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9177194", "url": "https://glygen.org/publication/PubMed/9177194" } ] }, { "title": "Bidirectional transport by distinct populations of COPI-coated vesicles.", "journal": "Cell", "date": "1997", "authors": "Orci L, Stamnes M, Ravazzola M, Amherdt M, Perrelet A, Sollner TH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9244307", "url": "https://glygen.org/publication/PubMed/9244307" } ] }, { "title": "ER-to-Golgi transport visualized in living cells.", "journal": "Nature", "date": "1997", "authors": "Presley JF, Cole NB, Schroer TA, Hirschberg K, Zaal KJ, Lippincott-Schwartz J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9288971", "url": "https://glygen.org/publication/PubMed/9288971" } ] }, { "title": "The KDEL receptor, ERD2, regulates intracellular traffic by recruiting a GTPase-activating protein for ARF1.", "journal": "The EMBO journal", "date": "1997", "authors": "Aoe T, Cukierman E, Lee A, Cassel D, Peters PJ, Hsu VW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9405360", "url": "https://glygen.org/publication/PubMed/9405360" } ] }, { "title": "A single binding site for dilysine retrieval motifs and p23 within the gamma subunit of coatomer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Harter C, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9751720", "url": "https://glygen.org/publication/PubMed/9751720" } ] }, { "title": "Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.", "journal": "Oncogene", "date": "1999", "authors": "Wimmer K, Zhu X X, Lamb B J, Kuick R, Ambros P F, Kovar H, Thoraval D, Motyka S, Alberts J R, Hanash S M", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "reference": [ { "type": "PubMed", "id": "9926938", "url": "https://glygen.org/publication/PubMed/9926938" } ] }, { "title": "Receptor-induced polymerization of coatomer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Reinhard C, Harter C, Bremser M, Brugger B, Sohn K, Helms JB, Wieland F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "9990005", "url": "https://glygen.org/publication/PubMed/9990005" } ] } ], "pathway": [ { "id": "hsa:51594", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "resource": "KEGG Pathway" }, { "id": "R-HSA-6811434", "name": "COPI-dependent Golgi-to-ER retrograde traffic", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "resource": "Reactome", "description": "COPI-dependent Golgi-to-ER retrograde traffic" } ], "orthologs": [ { "uniprot_canonical_ac": "E9Q411-1", "protein_name": "Neuroblastoma amplified sequence", "gene_name": "Nbas", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQLRGNRKHGASFIITKAIRDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFSGHYPHGINTAIYHPGHRLLLVGGCETAELGISKAASCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKLSPRLGQEQDGIFKMGLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYNELNPDWRLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSAKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGEVDSDSDPETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIDSEDYEEALCLAHTYGLDTDLVYQRQWRKSAVNSASIHNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDIDIDSIAYEELSPADKEPSKSKRQEELKKRRDLLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSHLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLTIIPWAEHKHRAEDWCEELECRMVVEPSLQDDSEFLYAAQPELLQYRTPQLTVEKVMAWYQSRAEDIEHHAGQVDCALSLVRLGVERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMEHCSEDNYVTSAYQWMVPFLHRCEKQSPGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGHNTKVTSSLHDMVDQLEKILSVSELLKTHGLEKPVSFVKNTQSSSEEARSLMVRLTRHTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACLDNPPAGALHKGRAQYRVSYERSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKTLPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEGRRGQVLILLVEQALHVHDYKVASMYCQQLMAAGYPESWAVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLEASSSLQTEILYQRVNFEIHPEGENISASPLPVKVLQEDAAALGSSSADLLHWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLAYLRPYQGQEFGRAYRIGIVANDDLERQGCHPFYESVIANPFVTEVPVESFAEVLLRTGKLTEAQTQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTGHVAQHGHEGWPEDLLSLSRQLHYYSERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAESLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSESGLSTGEIEKRAQTLHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCANFETTAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPGKHGQMLSPSSLYTVWLQKLFWAGDPHLIKQAPESSAEWLHACDVCLKYFDRLCPDDLITVMDAITFSPKAVSKLSVEAREEMTRKAIKTIKHFIEKPRKRNSEEDPQEGRGSQATYPDALAHLETSLAHLETLSHSFILSLRNSEQEILQKYSYFYDLSRSEKEKIHDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDIVHTAITQIISALSGGSADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDVLQWLRPFCAEDTYPVRPRIQVLQLLGQSFHLSEEDGKLLVFFRTEAILRAAWPQRQVDIADIENEENRHTLFSELLESSHREVEFQHLILLLQAWPPMKSECVLANNPWVRLVTAMLTRCTEENKQSLGDEVLKICRSLYNTTQMLPVEGVKELCLLLLHQSLLLPSLKLLLESGEESLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIVGHLVANNQQGRWNIEELARHLQEAGHEVEAGSLLLAVQGTHRVFRTFSIALSAVRQWV", "length": 2356 }, "evidence": [ { "id": "45919711", "url": "http://www.informatics.jax.org/homology/45919711", "database": "MGI" }, { "id": "A2RRP1", "url": "https://omabrowser.org/oma/group/A2RRP1/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "F1M0U5-1", "protein_name": "NBAS subunit of NRZ tethering complex", "gene_name": "Nbas", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQPRGNRKHGASFIITKAIKDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFADHYPHGVNTAIYHPGHRLLLVGGCETAELGISKASSCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKFYTRQGQEQDGIFKMSLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYDELNPDWTLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSSKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGDVDSDWDHETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNIASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDVDLDGITYEELSPPHKEPAQSKRQKELKKRHELLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSDLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLMIIPWAEQKHRAEDWCEELECRMVVEPGLQDDSEFLYAAQPELLQYRTPQLTVEKAMAWYRSRAQDIEHHAGQVDCALSLVRLGMERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMERCSEDNYVTSAYQWMVPFLHRCEKQSAGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGLNTKVTSSLHDMVDQLEKILSVSELLKNHGLEKPVSFVKNTQSSSEEARSLMVRLTRRTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACSDNLPAGVVHKGKPQYRVSYERSIDLVLAASREYFNSSTSLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKILPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEERHGQVLILLVEQALNVHDYKAASTYCQELMAAGYPDSWDVCSQLGQAEGFRDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFEIHPEGENINVVSPLTGKVLQEDDTSLGSSSADLLQWTTATTMRVLSNTTTTTRAVLQAVSDGQWWKKSLAYLRPLQGQDFGGAYRIGTVANDDLERQGCHPFYESVIANPFVTEQVPVESLAEVLLRTGKLAEAKAQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTRHVAQHGHEAWPEDLLSLTRQLHYYNERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAETLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSDSGLSTGEIEKRAQALHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCADFETAAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPEKEGQMLSPSSLYTVWLQKLFWTGDPHLIKQAPESSAEWLHAYDVCLKYFDRLGPHDLITVVDAITFSPKAVSKLSVEAREEMTRKAIKTVKHFIEKPRKRNSEEDPQEGSGSQATYADALAHLETSLAHLETLSHSFILSLKNSEQEVLQKYSYLYDLSRAEKGKLNDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDVVHTAITQIISSLSGTGADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDLLQWLRPFCAEDSCPVRPRIQVLQLLGQSFHLSEEDNKLLVFFRTEAILRAAWPQRQVDVADTESEESRHSLFMELLESSHHEVEFQHLILLLQAWPPMKSECVIANNLWVRLVTVMLTRCTTENKQRLGDEVLKICRSLYNSGQMLPVQGVKELCLLLLHQSLLLPSLKLLLESGDETLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIIAHLVANNQQGRWNAEELARHLQEAGHEAEAGSLLLAVQGTHRVFRTFSTALSALRQWV", "length": 2358 }, "evidence": [ { "id": "45919711", "url": "http://www.informatics.jax.org/homology/45919711", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "Dsl1/NZR complex", "id": "GO:0070939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070939", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process", "id": "GO:0000956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000956", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" }, { "name": "negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000623", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "A2RRP1", "url": "https://www.uniprot.org/uniprot/A2RRP1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1183, "end_pos": 1185, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1187, "end_pos": 1189, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1380, "end_pos": 1382, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1420, "end_pos": 1422, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1807, "end_pos": 1809, "annotation": "n_glycosylation_sequon" }, { "start_pos": 220, "end_pos": 222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2248, "end_pos": 2250, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2282, "end_pos": 2284, "annotation": "n_glycosylation_sequon" }, { "start_pos": 670, "end_pos": 672, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 307 ], "snv_sites": [ 111, 117, 143, 192, 242, 307, 455, 574, 637, 673, 764, 766, 817, 1073, 1091, 1334, 1357, 1404, 1421, 1439, 1540, 1541, 1563, 1612, 1694, 1723, 1757, 1778, 1908, 1922, 2030, 2196, 2225, 2359 ], "glycation_sites": [], "phosphorylation_sites": [ 473, 475, 511, 2052 ], "sequon_annotation_sites": [ { "start_pos": 1183, "end_pos": 1185 }, { "start_pos": 1187, "end_pos": 1189 }, { "start_pos": 1380, "end_pos": 1382 }, { "start_pos": 1420, "end_pos": 1422 }, { "start_pos": 1807, "end_pos": 1809 }, { "start_pos": 220, "end_pos": 222 }, { "start_pos": 2248, "end_pos": 2250 }, { "start_pos": 2282, "end_pos": 2284 }, { "start_pos": 670, "end_pos": 672 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 39 }, { "field": "total_sites", "count": 34 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 30 }, { "field": "total_sites", "count": 25 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 115 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }