{ "uniprot_canonical_ac": "O00423-1", "uniprot_ac": "O00423", "uniprot_id": "EMAL1_HUMAN", "mass": { "chemical_mass": 89861.0, "monoisotopic_mass": 89861.0 }, "refseq": { "ac": "NP_001008707", "name": "echinoderm microtubule-associated protein-like 1 isoform a", "summary": "Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" }, "gene_names": [ { "name": "EML1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00423", "id": "O00423" }, { "name": "BH; ELP79; EMAP; EMAP-1; EMAPL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707", "id": "NP_001008707" }, { "name": "EMAP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00423", "id": "O00423" }, { "name": "EMAPL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00423", "id": "O00423" }, { "name": "EMAPL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00423", "id": "O00423" }, { "name": "EML1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707", "id": "NP_001008707" } ], "protein_names": [ { "name": "Echinoderm microtubule-associated protein-like 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00423" }, { "name": "EMAP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00423" }, { "name": "HuEMAP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00423" }, { "name": "echinoderm microtubule associated protein like 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707", "id": "NP_001008707" }, { "name": "echinoderm microtubule-associated protein-like 1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707", "id": "NP_001008707" } ], "function": [ { "annotation": "A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" }, { "database": "PubMed", "id": "34211111", "url": "https://glygen.org/publication/PubMed/34211111" } ] }, { "annotation": "Biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" }, { "database": "PubMed", "id": "31710781", "url": "https://glygen.org/publication/PubMed/31710781" } ] }, { "annotation": "Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" }, { "database": "PubMed", "id": "35289477", "url": "https://glygen.org/publication/PubMed/35289477" } ] }, { "annotation": "Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" } ] }, { "annotation": "Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se.", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423#function" }, { "database": "UniProtKB", "id": "Q05BC3", "url": "https://www.uniprot.org/uniprot/Q05BC3#function" } ] }, { "annotation": "Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" }, { "database": "PubMed", "id": "31390572", "url": "https://glygen.org/publication/PubMed/31390572" } ] } ], "disease": [ { "disease_id": "DOID:0111169", "recommended_name": { "id": "DOID:0111169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111169", "name": "subcortical band heterotopia", "description": "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex." }, "synonyms": [ { "id": "DOID:0111169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111169", "name": "HeCo", "description": "" }, { "id": "DOID:0111169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111169", "name": "band heterotopia", "description": "" }, { "id": "DOID:0111169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111169", "name": "double cortex syndrome", "description": "" }, { "id": "DOID:0111169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111169", "name": "heterotopic cortex", "description": "" }, { "id": "DOID:0111169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111169", "name": "subcortical laminar heterotopia", "description": "" }, { "id": "MONDO:0010873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010873", "name": "band heterotopia of brain", "description": "" }, { "id": "MONDO:0010873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010873", "name": "band heterotopia of brain", "description": "" }, { "id": "MONDO:0010873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010873", "name": "BH", "description": "" }, { "id": "MONDO:0010873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010873", "name": "band heterotopia", "description": "" }, { "id": "MIM:600348", "resource": "MIM", "url": "https://www.omim.org/entry/600348", "name": "Band heterotopia", "description": "Band heterotopia" } ], "evidence": [ { "id": "600348", "database": "MIM", "url": "https://www.omim.org/entry/600348" } ] } ], "snv": [ { "evidence": [ { "id": "O00423", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00423" } ], "glycoeffect": [], "start_pos": 272, "end_pos": 272, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "99897281", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D272", "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: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: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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00423", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00423" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 556, "end_pos": 556, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "99914611", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S556", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": 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"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": 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"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", 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00423", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00423" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00423", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00423" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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}, { "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "common_name": "Human" } ], "gene": [ { "name": "EML1", "url": "https://www.uniprot.org/uniprot/O00423", "locus": { "chromosome": "14", "start_pos": 99942060, "end_pos": 99737693, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000066629", "url": "https://www.ensembl.org/id/ENSG00000066629" } ] } } ], "crossref": [ { "id": "ENSG00000066629", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000066629", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00423", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00423", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd21947", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21947", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "EML1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EML1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2009", "url": "https://www.ncbi.nlm.nih.gov/gene/2009", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3330", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3330", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "F8W717", "url": "https://www.ebi.ac.uk/intact/interactors/id:F8W717*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O00423", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00423*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001680", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005108", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005108", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011047", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011047", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2009", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2009", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "600348", "url": "http://www.omim.org/entry/600348", "database": "MIM", "categories": [ "Other" ] }, { "id": "602033", "url": "http://www.omim.org/entry/602033", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00423", "url": "https://www.nextprot.org/entry/NX_O00423", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00423", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00423", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ICCADFH", "url": "https://omabrowser.org/oma/group/ICCADFH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2959353at2759", "url": "http://www.orthodb.org/?query=2959353at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13720", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13720", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13720:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13720:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4CI8", "url": "https://www.rcsb.org/structure/4CI8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03451", "url": "http://pfam.xfam.org/family/PF03451", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00423", "url": "https://pharos.nih.gov/targets/O00423", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00423", "url": "http://purl.obolibrary.org/obo/PR_O00423", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A3B3IU69", "url": "https://www.uniprot.org/uniprot/A0A3B3IU69", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU69-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IU69-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKR4", "url": "https://www.uniprot.org/uniprot/A0A8V8TKR4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKR4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKR4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W717", "url": "https://www.uniprot.org/uniprot/F8W717", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W717-1", "url": "https://www.uniprot.org/uniprot/F8W717-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3J1", "url": "https://www.uniprot.org/uniprot/G3V3J1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3J1-1", "url": "https://www.uniprot.org/uniprot/G3V3J1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3N9", "url": "https://www.uniprot.org/uniprot/G3V3N9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3N9-1", "url": "https://www.uniprot.org/uniprot/G3V3N9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V497", "url": "https://www.uniprot.org/uniprot/G3V497", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V497-1", "url": "https://www.uniprot.org/uniprot/G3V497-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4H6", "url": "https://www.uniprot.org/uniprot/G3V4H6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4H6-1", "url": "https://www.uniprot.org/uniprot/G3V4H6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4U5", "url": "https://www.uniprot.org/uniprot/G3V4U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4U5-1", "url": "https://www.uniprot.org/uniprot/G3V4U5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V500", "url": "https://www.uniprot.org/uniprot/G3V500", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V500-1", "url": "https://www.uniprot.org/uniprot/G3V500-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V538", "url": "https://www.uniprot.org/uniprot/G3V538", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V538-1", "url": "https://www.uniprot.org/uniprot/G3V538-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5C8", "url": "https://www.uniprot.org/uniprot/G3V5C8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5C8-1", "url": "https://www.uniprot.org/uniprot/G3V5C8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJD8", "url": "https://www.uniprot.org/uniprot/H0YJD8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJD8-1", "url": "https://www.uniprot.org/uniprot/H0YJD8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJK4", "url": "https://www.uniprot.org/uniprot/H0YJK4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJK4-1", "url": "https://www.uniprot.org/uniprot/H0YJK4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJS9", "url": "https://www.uniprot.org/uniprot/H0YJS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJS9-1", "url": "https://www.uniprot.org/uniprot/H0YJS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJY3", "url": "https://www.uniprot.org/uniprot/H0YJY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJY3-1", "url": "https://www.uniprot.org/uniprot/H0YJY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00423-1", "url": "https://www.uniprot.org/uniprot/O00423-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00423-3", "url": "https://www.uniprot.org/uniprot/O00423-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 815, "header": "sp|O00423-1|EMAL1_HUMAN Isoform 1 of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=3 CANONICAL=O00423-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IU69-1", "url": "", "sequence": { "sequence": "MMYNEIGEAKKITERFIDPDKELEIMILNDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKRLNRSVSLLNACKLNRSTPSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 840, "header": "tr|A0A3B3IU69-1|A0A3B3IU69_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99940109, "end_pos": 99850248, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649352.1", "url": "https://www.ensembl.org/id/ENST00000649352.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498100.1", "url": "https://www.ensembl.org/id/ENSP00000498100.1" } ] } }, { "isoform_ac": "A0A8V8TKR4-1", "url": "", "sequence": { "sequence": "XKPKEPVFSAALLSLSPKSQGKRRVTHCKEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEW", "length": 72, "header": "tr|A0A8V8TKR4-1|EMAL1_HUMAN Computationally mapped isoform of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99894758, "end_pos": 99891199, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697131.1", "url": "https://www.ensembl.org/id/ENST00000697131.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513128.1", "url": "https://www.ensembl.org/id/ENSP00000513128.1" } ] } }, { "isoform_ac": "F8W717-1", "url": "", "sequence": { "sequence": "MEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKRLNRSVSLLNACKLNRSTPSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 803, "header": "tr|F8W717-1|EMAL1_HUMAN Computationally mapped isoform of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99940109, "end_pos": 99850879, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327921.13", "url": "https://www.ensembl.org/id/ENST00000327921.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000327384.9", "url": "https://www.ensembl.org/id/ENSP00000327384.9" } ] } }, { "isoform_ac": "G3V3J1-1", "url": "", "sequence": { "sequence": "MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKDH", "length": 85, "header": "tr|G3V3J1-1|G3V3J1_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99865522, "end_pos": 99793477, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555096.5", "url": "https://www.ensembl.org/id/ENST00000555096.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451269.1", "url": "https://www.ensembl.org/id/ENSP00000451269.1" } ] } }, { "isoform_ac": "G3V3N9-1", "url": "", "sequence": { "sequence": "MSDGEGPSADDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGK", "length": 379, "header": "tr|G3V3N9-1|G3V3N9_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99909416, "end_pos": 99737833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554479.5", "url": "https://www.ensembl.org/id/ENST00000554479.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451346.1", "url": "https://www.ensembl.org/id/ENSP00000451346.1" } ] } }, { "isoform_ac": "G3V497-1", "url": "", "sequence": { "sequence": "MEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSER", "length": 107, "header": "tr|G3V497-1|G3V497_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=8 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99878515, "end_pos": 99850879, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556835.5", "url": "https://www.ensembl.org/id/ENST00000556835.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451669.1", "url": "https://www.ensembl.org/id/ENSP00000451669.1" } ] } }, { "isoform_ac": "G3V4H6-1", "url": "", "sequence": { "sequence": "MMYNEIGEAKKITERFIDPDKELEIMILNDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETA", "length": 128, "header": "tr|G3V4H6-1|G3V4H6_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99865629, "end_pos": 99850248, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556947.1", "url": "https://www.ensembl.org/id/ENST00000556947.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451805.1", "url": "https://www.ensembl.org/id/ENSP00000451805.1" } ] } }, { "isoform_ac": "G3V4U5-1", "url": "", "sequence": { "sequence": "MEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSG", "length": 85, "header": "tr|G3V4U5-1|EMAL1_HUMAN Computationally mapped isoform of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99865611, "end_pos": 99850879, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556199.1", "url": "https://www.ensembl.org/id/ENST00000556199.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451991.1", "url": "https://www.ensembl.org/id/ENSP00000451991.1" } ] } }, { "isoform_ac": "G3V500-1", "url": "", "sequence": { "sequence": "MEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTL", "length": 285, "header": "tr|G3V500-1|EMAL1_HUMAN Computationally mapped isoform of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99900979, "end_pos": 99850879, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556714.5", "url": "https://www.ensembl.org/id/ENST00000556714.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452089.1", "url": "https://www.ensembl.org/id/ENSP00000452089.1" } ] } }, { "isoform_ac": "G3V538-1", "url": "", "sequence": { "sequence": "MSDGEGPSADDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKRLNRSVSLLNACKLNRSTPSNIKRTSSSERVSPGGRRESNGD", "length": 156, "header": "tr|G3V538-1|G3V538_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99878551, "end_pos": 99737833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555145.5", "url": "https://www.ensembl.org/id/ENST00000555145.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452160.1", "url": "https://www.ensembl.org/id/ENSP00000452160.1" } ] } }, { "isoform_ac": "G3V5C8-1", "url": "", "sequence": { "sequence": "MFFDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSL", "length": 92, "header": "tr|G3V5C8-1|G3V5C8_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99865596, "end_pos": 99809675, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553720.5", "url": "https://www.ensembl.org/id/ENST00000553720.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452292.1", "url": "https://www.ensembl.org/id/ENSP00000452292.1" } ] } }, { "isoform_ac": "H0YJD8-1", "url": "", "sequence": { "sequence": "XELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEGLWLQSEHSLGGGLCLTQKQKTWSPFTQMETNSSL", "length": 76, "header": "tr|H0YJD8-1|H0YJD8_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99920860, "end_pos": 99914576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557313.5", "url": "https://www.ensembl.org/id/ENST00000557313.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451288.1", "url": "https://www.ensembl.org/id/ENSP00000451288.1" } ] } }, { "isoform_ac": "H0YJK4-1", "url": "", "sequence": { "sequence": "VEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKRCEASESLFFL", "length": 121, "header": "tr|H0YJK4-1|H0YJK4_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99909341, "end_pos": 99897242, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554553.5", "url": "https://www.ensembl.org/id/ENST00000554553.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451706.1", "url": "https://www.ensembl.org/id/ENSP00000451706.1" } ] } }, { "isoform_ac": "H0YJS9-1", "url": "", "sequence": { "sequence": "GVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSERLRRLSWWR", "length": 66, "header": "tr|H0YJS9-1|H0YJS9_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99885897, "end_pos": 99865609, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557741.1", "url": "https://www.ensembl.org/id/ENST00000557741.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452063.1", "url": "https://www.ensembl.org/id/ENSP00000452063.1" } ] } }, { "isoform_ac": "H0YJY3-1", "url": "", "sequence": { "sequence": "XLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSG", "length": 182, "header": "tr|H0YJY3-1|H0YJY3_HUMAN Computationally mapped isoform of EMAP like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=1 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99911551, "end_pos": 99898233, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554386.1", "url": "https://www.ensembl.org/id/ENST00000554386.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452474.1", "url": "https://www.ensembl.org/id/ENSP00000452474.1" } ] } }, { "isoform_ac": "O00423-1", "url": "", "sequence": { "sequence": "MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 815, "header": "sp|O00423-1|EMAL1_HUMAN Isoform 1 of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=3 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99940109, "end_pos": 99793477, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262233.11", "url": "https://www.ensembl.org/id/ENST00000262233.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000262233.7", "url": "https://www.ensembl.org/id/ENSP00000262233.7" } ] } }, { "isoform_ac": "O00423-3", "url": "", "sequence": { "sequence": "MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKRLNRSVSLLNACKLNRSTPSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 834, "header": "sp|O00423-3|EMAL1_HUMAN Isoform 3 of Echinoderm microtubule-associated protein-like 1 OS=Homo sapiens OX=9606 GN=EML1 PE=1 SV=3 CANONICAL=O00423-1" }, "locus": { "chromosome": "14", "start_pos": 99940109, "end_pos": 99793477, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000334192.8", "url": "https://www.ensembl.org/id/ENST00000334192.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000334314.4", "url": "https://www.ensembl.org/id/ENSP00000334314.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00423", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00423" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00423" } ], "site_lbl": "Ser113" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2).", "journal": "Gene", "date": "1999", "authors": "Lepley D M, Palange J M, Suprenant K A", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "reference": [ { "type": "PubMed", "id": "10521658", "url": "https://glygen.org/publication/PubMed/10521658" } ] }, { "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": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" }, { "database": "iPTMnet", "id": "O00423", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00423" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical beta-propeller domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Richards MW, Law EW, Rennalls LP, Busacca S, O'Regan L, Fry AM, Fennell DA, Bayliss R", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "reference": [ { "type": "PubMed", "id": "24706829", "url": "https://glygen.org/publication/PubMed/24706829" } ] }, { "title": "Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.", "journal": "Nature neuroscience", "date": "2014", "authors": "Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "reference": [ { "type": "PubMed", "id": "24859200", "url": "https://glygen.org/publication/PubMed/24859200" } ] }, { "title": "Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain.", "journal": "The Biochemical journal", "date": "2015", "authors": "Richards MW, O'Regan L, Roth D, Montgomery JM, Straube A, Fry AM, Bayliss R", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "reference": [ { "type": "PubMed", "id": "25740311", "url": "https://glygen.org/publication/PubMed/25740311" } ] }, { "title": "The genetic landscape of familial congenital hydrocephalus.", "journal": "Annals of neurology", "date": "2017", "authors": "Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "reference": [ { "type": "PubMed", "id": "28556411", "url": "https://glygen.org/publication/PubMed/28556411" } ] }, { "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": "O00423", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00423" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.", "journal": "Cell reports", "date": "2019", "authors": "Uzquiano A, Cifuentes-Diaz C, Jabali A, Romero DM, Houllier A, Dingli F, Maillard C, Boland A, Deleuze JF, Loew D, Mancini GMS, Bahi-Buisson N, Ladewig J, Francis F", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" } ], "reference": [ { "type": "PubMed", "id": "31390572", "url": "https://glygen.org/publication/PubMed/31390572" } ] }, { "title": "EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.", "journal": "American journal of medical genetics. Part C, Seminars in medical genetics", "date": "2019", "authors": "Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" } ], "reference": [ { "type": "PubMed", "id": "31710781", "url": "https://glygen.org/publication/PubMed/31710781" } ] }, { "title": "A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.", "journal": "Journal of human genetics", "date": "2021", "authors": "Markus F, Kannengiesser A, Nader P, Atigbire P, Scholten A, Vossing C, Bultmann E, Korenke GC, Owczarek-Lipska M, Neidhardt J", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" } ], "reference": [ { "type": "PubMed", "id": "34211111", "url": "https://glygen.org/publication/PubMed/34211111" } ] }, { "title": "Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.", "journal": "EMBO reports", "date": "2022", "authors": "Jabali A, Hoffrichter A, Uzquiano A, Marsoner F, Wilkens R, Siekmann M, Bohl B, Rossetti AC, Horschitz S, Koch P, Francis F, Ladewig J", "evidence": [ { "database": "RefSeq", "id": "NP_001008707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008707" } ], "reference": [ { "type": "PubMed", "id": "35289477", "url": "https://glygen.org/publication/PubMed/35289477" } ] }, { "title": "Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.", "journal": "Genomics", "date": "1997", "authors": "Eudy J D, Ma-Edmonds M, Yao S F, Talmadge C B, Kelley P M, Weston M D, Kimberling W J, Sumegi J", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "reference": [ { "type": "PubMed", "id": "9226380", "url": "https://glygen.org/publication/PubMed/9226380" } ] } ], "pathway": [ { "id": "hsa:2009", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2009", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q05BC3-1", "protein_name": "Echinoderm microtubule-associated protein-like 1", "gene_name": "Eml1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVSDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLGQTLPLRTTVNNGTVLPKKPSASLPAPSGARKEVVVPVTKSINRTSSSERVSPGGRRESSGDSKGSRNRTGSTSSSSSGKKNSESKPKEPAFSPEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKAELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGGHLCAVDDSNDHVLSVWDWQKEERLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGNSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRRLISWNGNYQKLHKAEIPEQFGPIRTVAEGKGNVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKPQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVTDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHERKLLCTGDDFGKVHLFSYPCSQFRAPSHIYSGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 814 }, "evidence": [ { "id": "45926718", "url": "http://www.informatics.jax.org/homology/45926718", "database": "MGI" }, { "id": "O00423", "url": "https://omabrowser.org/oma/group/O00423/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q4V8C3-1", "protein_name": "Echinoderm microtubule-associated protein-like 1", "gene_name": "Eml1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEISDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLGQTLPLRTTVNNGTVLPKKPSASLPSPSGSRKEMVVPVTKSINRTSSSERVSPGGRRESSGDSKGSRNRTGSTSSSSSGKKNSESKPKEPTFSPEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKAELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGSHLCAVDDSNDHVLSVWDWQREERLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGNSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRRLISWNGNYQKLHKAEIPEQFGPIRTVAEGKGNVILIGTTRNFVLQGTLTGDFTPITQGHTDELWGLAIHASKPQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYSGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI", "length": 814 }, "evidence": [ { "id": "45926718", "url": "http://www.informatics.jax.org/homology/45926718", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "mitotic spindle midzone", "id": "GO:1990023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990023", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "O00423", "url": "https://www.uniprot.org/uniprot/O00423" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 156, "end_pos": 158, "annotation": "n_glycosylation_sequon" }, { "start_pos": 67, "end_pos": 69, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "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": [ 272, 556 ], "glycation_sites": [], "phosphorylation_sites": [ 113 ], "sequon_annotation_sites": [ { "start_pos": 156, "end_pos": 158 }, { "start_pos": 67, "end_pos": 69 }, { "start_pos": 99, "end_pos": 101 } ] }, "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": "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" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 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": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }