{ "uniprot_canonical_ac": "P0CAP1-1", "uniprot_ac": "P0CAP1", "uniprot_id": "MYZAP_HUMAN", "mass": { "chemical_mass": 54206.0, "monoisotopic_mass": 54206.0 }, "refseq": { "ac": "NP_001018100", "name": "GRINL1A combined protein isoform 1", "summary": "This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" }, "gene_names": [ { "name": "MYZAP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0CAP1", "id": "P0CAP1" }, { "name": "GCOM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100", "id": "NP_001018100" }, { "name": "MYOZAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0CAP1", "id": "P0CAP1" }, { "name": "gcom; Gcom2; GRINL1A; MYZAP; MYZAP-POLR2M", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100", "id": "NP_001018100" } ], "protein_names": [ { "name": "Myocardial zonula adherens protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0CAP1" }, { "name": "GRINL1A combined protein isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100", "id": "NP_001018100" }, { "name": "GRINL1A upstream protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0CAP1" }, { "name": "Gup", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0CAP1" }, { "name": "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A combined protein; DNA-directed RNA polymerase II subunit GRINL1A; MYZAP-POLR2M readthrough; myocardial zonula adherens protein; NMDAR1 subunit-interacting protein; GRINL1A combined protein Gcom12; DNA-directed RNA polymerase II subunit M; Glutamate receptor-like protein 1A; GRINL1A complex locus 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100", "id": "NP_001018100" } ], "function": [ { "annotation": "Genetic and transcriptional organization of gene", "evidence": [ { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" }, { "database": "PubMed", "id": "15233991", "url": "https://glygen.org/publication/PubMed/15233991" } ] }, { "annotation": "Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1#function" } ] }, { "annotation": "Reveal myozap as a previously unrecognized component of a Rho-dependent signaling pathway that links the intercalated disc to cardiac gene regulation.", "evidence": [ { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" }, { "database": "PubMed", "id": "20093627", "url": "https://glygen.org/publication/PubMed/20093627" } ] }, { "annotation": "This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" } ] }, { "annotation": "Yeast two-hybrid (Y2H) screens indicate 27 novel GRINL1A complex locus 1 (GCOM1) interacting genes, many of which are synaptic proteins and/or play roles in neurologic diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" }, { "database": "PubMed", "id": "29339073", "url": "https://glygen.org/publication/PubMed/29339073" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P0CAP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0CAP1" } ], "glycoeffect": [], "start_pos": 130, "end_pos": 130, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "57621678", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R130", "disease": [ { "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: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" } ] }, { "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": "P0CAP1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0CAP1" } ], "glycoeffect": [], "start_pos": 308, "end_pos": 308, "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": "15", "chr_pos": "57633730", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R308", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "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" ] } ], "mutagenesis": [ { "start_pos": 436, "end_pos": 436, "sequence_org": "Q", "sequence_mut": "G", "comment": "No effect on DYNLL1-binding; when associated with G-448.", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" }, { "database": "PubMed", "id": "20412299", "url": "https://glygen.org/publication/PubMed/20412299" } ] }, { "start_pos": 448, "end_pos": 448, "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on DYNLL1-binding; when associated with G-436.", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" }, { "database": "PubMed", "id": "20412299", "url": "https://glygen.org/publication/PubMed/20412299" } ] }, { "start_pos": 450, "end_pos": 450, "sequence_org": "Y", "sequence_mut": "G", "comment": "No effect on DYNLL1-binding.", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" }, { "database": "PubMed", "id": "20412299", "url": "https://glygen.org/publication/PubMed/20412299" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "60.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000263155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000263155" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0CAP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CAP1" } ], "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": 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"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": "" }, 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"" }, { "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": 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"BioXpress", "id": "P0CAP1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CAP1" } ], "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": 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"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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CAP1" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CAP1-5", "url": "https://www.uniprot.org/uniprot/P0CAP1-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CAP1-6", "url": "https://www.uniprot.org/uniprot/P0CAP1-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CAP1-7", "url": "https://www.uniprot.org/uniprot/P0CAP1-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CAP1-8", "url": "https://www.uniprot.org/uniprot/P0CAP1-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CAP1-9", "url": "https://www.uniprot.org/uniprot/P0CAP1-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": 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CANONICAL=P0CAP1-1" }, "locus": { "chromosome": "15", "start_pos": 57684419, "end_pos": 57633664, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461709.1", "url": "https://www.ensembl.org/id/ENST00000461709.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431396.1", "url": "https://www.ensembl.org/id/ENSP00000431396.1" } ] } }, { "isoform_ac": "H3BTD5-1", "url": "", "sequence": { "sequence": "MEISLVKCSEANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLE", "length": 132, "header": "tr|H3BTD5-1|H3BTD5_HUMAN Computationally mapped isoform of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=4 SV=1 CANONICAL=P0CAP1-1" }, "locus": { "chromosome": "15", "start_pos": 57625808, "end_pos": 57599674, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569089.1", "url": "https://www.ensembl.org/id/ENST00000569089.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457126.1", "url": "https://www.ensembl.org/id/ENSP00000457126.1" } ] } }, { "isoform_ac": "P0CAP1-1", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT", "length": 466, "header": "sp|P0CAP1-1|MYZAP_HUMAN Isoform 1 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": { "chromosome": "15", "start_pos": 57684495, "end_pos": 57592035, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000267853.10", "url": "https://www.ensembl.org/id/ENST00000267853.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000267853.5", "url": "https://www.ensembl.org/id/ENSP00000267853.5" } ] } }, { "isoform_ac": "P0CAP1-10", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT", "length": 397, "header": "sp|P0CAP1-10|MYZAP_HUMAN Isoform 10 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-11", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTEVETREIGVGCDLLPRLPFRQNDSSSHCQKSGSPISSEERRRRDKQHLDDITAARLLPLHHMPTQLLSIEESLALQKQQKQNYEEMQAKLAAQKLAERLNIKMRSYNPEGESSGRYREVRDEDDDWSSDEF", "length": 550, "header": "sp|P0CAP1-11|MYZAP_HUMAN Isoform 11 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-2", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTEVETREIGVGCDLLPRRCKQSSQRKN", "length": 445, "header": "sp|P0CAP1-2|MYZAP_HUMAN Isoform 2 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-3", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT", "length": 435, "header": "sp|P0CAP1-3|MYZAP_HUMAN Isoform 3 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-4", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEENNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT", "length": 438, "header": "sp|P0CAP1-4|MYZAP_HUMAN Isoform 4 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": { "chromosome": "15", "start_pos": 57684495, "end_pos": 57592035, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380565.8", "url": "https://www.ensembl.org/id/ENST00000380565.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000369939.4", "url": "https://www.ensembl.org/id/ENSP00000369939.4" } ] } }, { "isoform_ac": "P0CAP1-5", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIMSHELFSRFSLRLFGR", "length": 390, "header": "sp|P0CAP1-5|MYZAP_HUMAN Isoform 5 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-6", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGEGRKGLKGRLKMSC", "length": 414, "header": "sp|P0CAP1-6|MYZAP_HUMAN Isoform 6 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-7", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGEVTFSTK", "length": 407, "header": "sp|P0CAP1-7|MYZAP_HUMAN Isoform 7 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-8", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEVTFSTK", "length": 379, "header": "sp|P0CAP1-8|MYZAP_HUMAN Isoform 8 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} }, { "isoform_ac": "P0CAP1-9", "url": "", "sequence": { "sequence": "MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEENNELQSRLDYLTETQAKTEVETREIGVGCDLLPRQSRKFEKVLNEFVQLLPLPHHLLWAFGNVCWRRHFGLLQ", "length": 415, "header": "sp|P0CAP1-9|MYZAP_HUMAN Isoform 9 of Myocardial zonula adherens protein OS=Homo sapiens OX=9606 GN=MYZAP PE=1 SV=1 CANONICAL=P0CAP1-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P0CAP1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0CAP1" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes.", "journal": "Genomics", "date": "2004", "authors": "Roginski RS, Mohan Raj BK, Birditt B, Rowen L", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" }, { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" } ], "reference": [ { "type": "PubMed", "id": "15233991", "url": "https://glygen.org/publication/PubMed/15233991" } ] }, { "title": "GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity.", "journal": "NeuroReport", "date": "2008", "authors": "Roginski RS, Goubaeva F, Mikami M, Fried-Cassorla E, Nair MR, Yang J", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "reference": [ { "type": "PubMed", "id": "18849881", "url": "https://glygen.org/publication/PubMed/18849881" } ] }, { "title": "Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo.", "journal": "Circ. Res.", "date": "2010", "authors": "Seeger TS, Frank D, Rohr C, Will R, Just S, Grund C, Lyon R, Luedde M, Koegl M, Sheikh F, Rottbauer W, Franke WW, Katus HA, Olson EN, Frey N", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" }, { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" } ], "reference": [ { "type": "PubMed", "id": "20093627", "url": "https://glygen.org/publication/PubMed/20093627" } ] }, { "title": "Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A.", "journal": "The FEBS journal", "date": "2010", "authors": "Garcia-Mayoral MF, Martinez-Moreno M, Albar JP, Rodriguez-Crespo I, Bruix M", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "reference": [ { "type": "PubMed", "id": "20412299", "url": "https://glygen.org/publication/PubMed/20412299" } ] }, { "title": "Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration.", "journal": "EMBO J.", "date": "2011", "authors": "Huo L, Wen W, Wang R, Kam C, Xia J, Feng W, Zhang M", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "reference": [ { "type": "PubMed", "id": "21240187", "url": "https://glygen.org/publication/PubMed/21240187" } ] }, { "title": "Patients with a new variant of endemic pemphigus foliaceus have autoantibodies against arrector pili muscle, colocalizing with MYZAP, p0071, desmoplakins 1 and 2 and ARVCF.", "journal": "Clin. Exp. Dermatol.", "date": "2017", "authors": "Abreu-Velez A M, Valencia-Yepes C A, Upegui-Zapata Y A, Upegui-Quiceno E, Mesa-Herrera N R, Velazquez-Velez J E, Howard M S", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "reference": [ { "type": "PubMed", "id": "29034528", "url": "https://glygen.org/publication/PubMed/29034528" } ] }, { "title": "The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.", "journal": "Gene", "date": "2018", "authors": "Roginski RS, Lau CW, Santoiemma PP, Weaver SJ, Du P, Soteropoulos P, Yang J", "evidence": [ { "database": "RefSeq", "id": "NP_001018100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018100" } ], "reference": [ { "type": "PubMed", "id": "29339073", "url": "https://glygen.org/publication/PubMed/29339073" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P0CAP1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0CAP1" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:100820829", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:100820829", "resource": "KEGG Pathway" }, { "id": "hsa:145781", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:145781", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UIJ9-1", "protein_name": "Myocardial zonula adherens protein", "gene_name": "Myzap", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRSTSTVTLFSGGGAKSPGTPSRRANVCRLRLTVPPENPVPQQTEKKIERKDQPPELSNGESTKRLPQGVVYGVVRRSDPNQQKEMVVYGWSTNQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQDLSVSHAQQDYLDSHIQAQASALDSFNAMNAALASDSVGLQKTLVDVTLENSHIKDQIRHLQQTYEASMDKLREKQRQLEAAQMENQLLKMRVESSQEANAEVMREMTRKLYSQYEEKLQEAQRKHSAEKEVLLEETNSFLKAIEEANKKMEAAELSLEEKDQKIGELDRLIERMEKERHQLQLQLLEHETEMSGEMADSDKNRYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKVQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQPKTEVETREIGVGCDLLPSPTGRTREITMPSRSYTPYTRVLELSSKKTLT", "length": 466 }, "evidence": [ { "id": "45925804", "url": "http://www.informatics.jax.org/homology/45925804", "database": "MGI" }, { "id": "P0CAP1", "url": "https://omabrowser.org/oma/group/P0CAP1/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q5EB94-1", "protein_name": "Myocardial zonula adherens protein", "gene_name": "Myzap", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRSTSTVTLLSGGSAKSPGTPSRRANVCRLRLTVPPENPVPQQKEKKIERKDQPPELSNGESTKKLPQGVVYGVVRRSDPNQQKEMVVYGWSTNQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQDLSVSHAQQDYLDSHIQAQASALDSFNAMNSALALDSVGLQKTLVDVTLENSNIKDQIRHLQQTYEASMDKLREKQRQLEAAQMENQLLKMRVESSQEANAEVMREMTRKLYSQYEEKLQEAQRKHSAEKEVLLEETNSFLKAIEEANKKMEAAELSLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGEMADFDKNRYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKVQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQPKTEVETREIGVGCDLLPSTTGRTREIAVPSRSYTPYTRVLELTSKKTLT", "length": 466 }, "evidence": [ { "id": "45925804", "url": "http://www.informatics.jax.org/homology/45925804", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6P6I6-1", "protein_name": "DNA-directed RNA polymerase II subunit GRINL1A", "gene_name": "Polr2m", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFSLPRGFEPPAPEDLGRQSSAELRERLRRQERLLRNEKFICKLPDKGKKISDTVAKLKAAISEREEVRGRSELFHPVSVDCKLRQKATTRADTDVDKAQSSDLMLDTSSLDPDCSSIDIKSSKSTSETQGPTHLTHRGNEETLEAGYTVNSSPAAHIRARAPSSEVKEHLPQHSVSSQEEEISSSIDSLFITKLQKITIADQSEPSEENTSTENFPELQSETPKKPHYMKVLEMRARNPVPPPHKFKTNVLPTQQSDSPSHCQRGQSPASSEEQRRRARQHLDDITAARLLPLHHLPAQLLSIEESLALQREQKQNYEEMQAKLAAQKLAERLNIKMQSYNPEGESSGRYREVRDEADAQSSDEC", "length": 366 }, "evidence": [ { "id": "45931989", "url": "http://www.informatics.jax.org/homology/45931989", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q91XQ4-1", "protein_name": "DNA-directed RNA polymerase II subunit GRINL1A", "gene_name": "Polr2m", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MCSLPRGFEPPAPEDLGRQSSAELRERLRRQERLLRNEKFICKLPDKGKKISDTIAKLKAAISEREEVRGRTELFHPVSVDCKLRHKATTRVDTDIDKAQNSDLMLDTSSLVPECSSVDIESSKTTSETQGPTHLTHKGNEETLATGCTVNTCPSARITTQDPSSEVNEHLPQHSSQVEEISSSVDSLFITKLQKITIADQTEPSEENTSTENFPGLQSETPKKPHYMKVLEMRAKNPVPPPHKFKTNVLPTQQSDSSSHCHKGQSPASSEEHRRRARQHLDDVTAARLLPLHHLPAQLLSIEESLALQKEQKQNYEEMQAKLAAQKLAERLNIKMQSFNPEGESSGRYREVRDEDDAQSSDEC", "length": 364 }, "evidence": [ { "id": "45931989", "url": "http://www.informatics.jax.org/homology/45931989", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "RNA polymerase II, holoenzyme", "id": "GO:0016591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016591", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" }, { "name": "maintenance of ER location", "id": "GO:0051685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051685", "evidence": [ { "database": "UniProtKB", "id": "P0CAP1", "url": "https://www.uniprot.org/uniprot/P0CAP1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 449, "end_pos": 451, "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": [], "snv_sites": [ 130, 308 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 449, "end_pos": 451 } ] }, "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" ] }, { "table_id": 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{ "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }