{ "uniprot_canonical_ac": "O95970-1", "uniprot_ac": "O95970", "uniprot_id": "LGI1_HUMAN", "mass": { "chemical_mass": 63818.0, "monoisotopic_mass": 63818.0 }, "refseq": { "ac": "NP_001295204", "name": "leucine-rich glioma-inactivated protein 1 isoform 2 precursor", "summary": "This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, "gene_names": [ { "name": "LGI1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95970", "id": "O95970" }, { "name": "ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204", "id": "NP_001295204" }, { "name": "EPT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95970", "id": "O95970" }, { "name": "LGI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204", "id": "NP_001295204" }, { "name": "PRO1569", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95970", "id": "O95970" } ], "protein_names": [ { "name": "Leucine-rich glioma-inactivated protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95970" }, { "name": "Epitempin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95970" }, { "name": "leucine-rich glioma-inactivated protein 1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204", "id": "NP_001295204" }, { "name": "leucine-rich glioma-inactivated protein 1; epitempin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204", "id": "NP_001295204" } ], "function": [ { "annotation": "A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "34767694", "url": "https://glygen.org/publication/PubMed/34767694" } ] }, { "annotation": "ADAM22/LGI1 complex as a new actionable target for breast cancer brain metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "33208158", "url": "https://glygen.org/publication/PubMed/33208158" } ] }, { "annotation": "Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene.", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "35643238", "url": "https://glygen.org/publication/PubMed/35643238" } ] }, { "annotation": "Characterization of cardiac bradyarrhythmia associated with LGI1-IgG autoimmune encephalitis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "36304459", "url": "https://glygen.org/publication/PubMed/36304459" } ] }, { "annotation": "Clinical characteristics of patients double positive for CASPR2 and LGI1-antibodies.", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "32911250", "url": "https://glygen.org/publication/PubMed/32911250" } ] }, { "annotation": "Mutations cause autosomal-dominant partial epilepsy with auditory features", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "11810107", "url": "https://glygen.org/publication/PubMed/11810107" } ] }, { "annotation": "Mutations in LGI1 causes autosomal dominant lateral temporal epilepsy", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" }, { "database": "PubMed", "id": "11978770", "url": "https://glygen.org/publication/PubMed/11978770" } ] }, { "annotation": "Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival.", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970#function" }, { "database": "PubMed", "id": "16518856", "url": "https://glygen.org/publication/PubMed/16518856" }, { "database": "PubMed", "id": "15047712", "url": "https://glygen.org/publication/PubMed/15047712" } ] }, { "annotation": "This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ] } ], "disease": [ { "disease_id": "DOID:0060748", "recommended_name": { "id": "DOID:0060748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060748", "name": "familial temporal lobe epilepsy 1", "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24." }, "synonyms": [ { "id": "DOID:0060748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060748", "name": "ETL1", "description": "" }, { "id": "DOID:0060748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060748", "name": "partial epilepsy with auditory features", "description": "" }, { "id": "MONDO:0700090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700090", "name": "epilepsy, familial temporal lobe, 1", "description": "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. 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"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", 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"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 - 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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}, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95970" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95970" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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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": "O95970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95970" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95970" } ], "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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"http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95970" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GTM5-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GTM5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUD3", "url": "https://www.uniprot.org/uniprot/A0A1B0GUD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUD3-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GUD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GV33", "url": "https://www.uniprot.org/uniprot/A0A1B0GV33", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GV33-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GV33-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVF6", "url": "https://www.uniprot.org/uniprot/A0A1B0GVF6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVF6-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVF6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVP2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVP2-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVP2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GWB4", "url": "https://www.uniprot.org/uniprot/A0A1B0GWB4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GWB4-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWB4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95970-1", "url": "https://www.uniprot.org/uniprot/O95970-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95970-2", "url": "https://www.uniprot.org/uniprot/O95970-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95970-3", "url": "https://www.uniprot.org/uniprot/O95970-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA", "length": 557, "header": "sp|O95970-1|LGI1_HUMAN Isoform 1 of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SFE3-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLL", "length": 96, "header": "tr|A0A0D9SFE3-1|A0A0D9SFE3_HUMAN Computationally mapped isoform of Leucine rich glioma inactivated 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93758832, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478763.2", "url": "https://www.ensembl.org/id/ENST00000478763.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486517.1", "url": "https://www.ensembl.org/id/ENSP00000486517.1" } ] } }, { "isoform_ac": "A0A0D9SFH6-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNV", "length": 168, "header": "tr|A0A0D9SFH6-1|A0A0D9SFH6_HUMAN Computationally mapped isoform of Leucine rich glioma inactivated 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93790171, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630184.2", "url": "https://www.ensembl.org/id/ENST00000630184.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486607.1", "url": "https://www.ensembl.org/id/ENSP00000486607.1" } ] } }, { "isoform_ac": "A0A0D9SFS5-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISL", "length": 72, "header": "tr|A0A0D9SFS5-1|A0A0D9SFS5_HUMAN Computationally mapped isoform of Leucine-rich glioma inactivated 1 isoform 3 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93759044, "end_pos": 93758829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627699.1", "url": "https://www.ensembl.org/id/ENST00000627699.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000485868.1", "url": "https://www.ensembl.org/id/ENSP00000485868.1" } ] } }, { "isoform_ac": "A0A0D9SFU4-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA", "length": 533, "header": "tr|A0A0D9SFU4-1|A0A0D9SFU4_HUMAN Computationally mapped isoform of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93797800, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629035.2", "url": "https://www.ensembl.org/id/ENST00000629035.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486908.1", "url": "https://www.ensembl.org/id/ENSP00000486908.1" } ] } }, { "isoform_ac": "A0A1B0GTM5-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLRDGVGRI", "length": 151, "header": "tr|A0A1B0GTM5-1|A0A1B0GTM5_HUMAN Computationally mapped isoform of Leucine rich glioma inactivated 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93780303, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637925.1", "url": "https://www.ensembl.org/id/ENST00000637925.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489763.1", "url": "https://www.ensembl.org/id/ENSP00000489763.1" } ] } }, { "isoform_ac": "A0A1B0GUD3-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGS", "length": 281, "header": "tr|A0A1B0GUD3-1|A0A1B0GUD3_HUMAN Computationally mapped isoform of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93793898, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635953.1", "url": "https://www.ensembl.org/id/ENST00000635953.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490058.1", "url": "https://www.ensembl.org/id/ENSP00000490058.1" } ] } }, { "isoform_ac": "A0A1B0GV33-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGQSCWCPQ", "length": 287, "header": "tr|A0A1B0GV33-1|A0A1B0GV33_HUMAN Computationally mapped isoform of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93805494, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636155.1", "url": "https://www.ensembl.org/id/ENST00000636155.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490355.1", "url": "https://www.ensembl.org/id/ENSP00000490355.1" } ] } }, { "isoform_ac": "A0A1B0GVF6-1", "url": "", "sequence": { "sequence": "MKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA", "length": 100, "header": "tr|A0A1B0GVF6-1|A0A1B0GVF6_HUMAN Computationally mapped isoform of Leucine rich glioma inactivated 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93797800, "end_pos": 93797501, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637689.1", "url": "https://www.ensembl.org/id/ENST00000637689.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490496.1", "url": "https://www.ensembl.org/id/ENSP00000490496.1" } ] } }, { "isoform_ac": "A0A1B0GVP2-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAILCEIWFY", "length": 52, "header": "tr|A0A1B0GVP2-1|A0A1B0GVP2_HUMAN Computationally mapped isoform of Leucine rich glioma inactivated 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=4 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93758783, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638049.1", "url": "https://www.ensembl.org/id/ENST00000638049.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490597.1", "url": "https://www.ensembl.org/id/ENSP00000490597.1" } ] } }, { "isoform_ac": "A0A1B0GWB4-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLFRETQTQAENLHCRGAGAPQMAVGDAFLAAEPGGTETNAVFEPVWSALERRLSSGFHSHNRRFSWVNDENTKGQEMVIISVKKEWPSAFENT", "length": 236, "header": "tr|A0A1B0GWB4-1|A0A1B0GWB4_HUMAN Computationally mapped isoform of Leucine rich glioma inactivated 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93783019, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637037.1", "url": "https://www.ensembl.org/id/ENST00000637037.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490860.1", "url": "https://www.ensembl.org/id/ENSP00000490860.1" } ] } }, { "isoform_ac": "O95970-1", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA", "length": 557, "header": "sp|O95970-1|LGI1_HUMAN Isoform 1 of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93797800, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371418.9", "url": "https://www.ensembl.org/id/ENST00000371418.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000360472.4", "url": "https://www.ensembl.org/id/ENSP00000360472.4" } ] } }, { "isoform_ac": "O95970-2", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITVLREIHRFTNMS", "length": 291, "header": "sp|O95970-2|LGI1_HUMAN Isoform 2 of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93797783, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371413.4", "url": "https://www.ensembl.org/id/ENST00000371413.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000360467.3", "url": "https://www.ensembl.org/id/ENSP00000360467.3" } ] } }, { "isoform_ac": "O95970-3", "url": "", "sequence": { "sequence": "MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA", "length": 509, "header": "sp|O95970-3|LGI1_HUMAN Isoform 3 of Leucine-rich glioma-inactivated protein 1 OS=Homo sapiens OX=9606 GN=LGI1 PE=1 SV=1 CANONICAL=O95970-1" }, "locus": { "chromosome": "10", "start_pos": 93797800, "end_pos": 93758145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630047.2", "url": "https://www.ensembl.org/id/ENST00000630047.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000485917.1", "url": "https://www.ensembl.org/id/ENSP00000485917.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "O95970", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95970#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Asn", "end_pos": 212, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn212", "evidence": [ { "id": "5Y31", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5Y31" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 277, "start_aa": "Asn", "end_pos": 277, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn277", "evidence": [ { "id": "O95970", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95970#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 422, "start_aa": "Asn", "end_pos": 422, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn422", "evidence": [ { "id": "O95970", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95970#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", 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"glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.", "journal": "Nature genetics", "date": "2002", "authors": "Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" }, { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "11810107", "url": "https://glygen.org/publication/PubMed/11810107" } ] }, { "title": "Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.", "journal": "Hum. Mol. Genet.", "date": "2002", "authors": "Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A, Poza JJ, Galan J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Marti-Masso JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Perez-Tur J, Lopez de Munain A", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" }, { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "11978770", "url": "https://glygen.org/publication/PubMed/11978770" } ] }, { "title": "LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.", "journal": "Annals of neurology", "date": "2002", "authors": "Gu W, Brodtkorb E, Steinlein OK", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "12205652", "url": "https://glygen.org/publication/PubMed/12205652" } ] }, { "title": "Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.", "journal": "Annals of neurology", "date": "2003", "authors": "Pizzuti A, Flex E, Di Bonaventura C, Dottorini T, Egeo G, Manfredi M, Dallapiccola B, Giallonardo AT", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "12601709", "url": "https://glygen.org/publication/PubMed/12601709" } ] }, { "title": "Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.", "journal": "Neurology", "date": "2003", "authors": "Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "12771268", "url": "https://glygen.org/publication/PubMed/12771268" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kunapuli P, Kasyapa CS, Hawthorn L, Cowell JK", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "15047712", "url": "https://glygen.org/publication/PubMed/15047712" } ] }, { "title": "LGI1 mutations in temporal lobe epilepsies.", "journal": "Neurology", "date": "2004", "authors": "Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "15079010", "url": "https://glygen.org/publication/PubMed/15079010" } ] }, { "title": "Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells.", "journal": "Journal of cellular physiology", "date": "2006-06", "authors": "Gabellini Nadia, Masola V, Quartesan S, Oselladore B, Nobile C, Michelucci R, Curtarello M, Parolin C, Pal\u00f9 G", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "16518856", "url": "https://glygen.org/publication/PubMed/16518856" } ] }, { "title": "The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain.", "journal": "J. Neurochem.", "date": "2006", "authors": "Furlan S, Roncaroli F, Forner F, Vitiello L, Calabria E, Piquer-Sirerol S, Valle G, Perez-Tur J, Michelucci R, Nobile C", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "16787412", "url": "https://glygen.org/publication/PubMed/16787412" } ] }, { "title": "Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "16990550", "url": "https://glygen.org/publication/PubMed/16990550" } ] }, { "title": "The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface.", "journal": "Human molecular genetics", "date": "2006", "authors": "Sirerol-Piquer MS, Ayerdi-Izquierdo A, Morante-Redolat JM, Herranz-Perez V, Favell K, Barker PA, Perez-Tur J", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "17067999", "url": "https://glygen.org/publication/PubMed/17067999" } ] }, { "title": "Two novel epilepsy-linked mutations leading to a loss of function of LGI1.", "journal": "Archives of neurology", "date": "2007", "authors": "Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, Baulac M, LeGuern E, Baulac S", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "17296837", "url": "https://glygen.org/publication/PubMed/17296837" } ] }, { "title": "Abeta upregulates and colocalizes with LGI3 in cultured rat astrocytes.", "journal": "Cellular and molecular neurobiology", "date": "2007", "authors": "Kimura N, Ishii Y, Suzaki S, Negishi T, Kyuwa S, Yoshikawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "17387609", "url": "https://glygen.org/publication/PubMed/17387609" } ] }, { "title": "A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.", "journal": "Neurology", "date": "2007", "authors": "Michelucci R, Mecarelli O, Bovo G, Bisulli F, Testoni S, Striano P, Striano S, Tinuper P, Nobile C", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "17562837", "url": "https://glygen.org/publication/PubMed/17562837" } ] }, { "title": "A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.", "journal": "Archives of neurology", "date": "2008", "authors": "Striano P, de Falco A, Diani E, Bovo G, Furlan S, Vitiello L, Pinardi F, Striano S, Michelucci R, de Falco FA, Nobile C", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "18625862", "url": "https://glygen.org/publication/PubMed/18625862" } ] }, { "title": "Leucine-rich glioma inactivated 3 is involved in amyloid beta peptide uptake by astrocytes and endocytosis itself.", "journal": "Neuroreport", "date": "2008", "authors": "Okabayashi S, Kimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "18628660", "url": "https://glygen.org/publication/PubMed/18628660" } ] }, { "title": "LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11.", "journal": "International journal of biological sciences", "date": "2008", "authors": "Sagane K, Ishihama Y, Sugimoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "18974846", "url": "https://glygen.org/publication/PubMed/18974846" } ] }, { "title": "LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.", "journal": "Human mutation", "date": "2009-04", "authors": "Nobile Carlo, Michelucci Roberto, Andreazza Simonetta, Pasini Elena, Tosatto Silvio C E, Striano Pasquale", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "19191227", "url": "https://glygen.org/publication/PubMed/19191227" } ] }, { "title": "Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings.", "journal": "Epilepsia", "date": "2009", "authors": "Di Bonaventura C, Carni M, Diani E, Fattouch J, Vaudano EA, Egeo G, Pantano P, Maraviglia B, Bozzao L, Manfredi M, Prencipe M, Giallonardo TA, Nobile C", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "19552651", "url": "https://glygen.org/publication/PubMed/19552651" } ] }, { "title": "Leucine-rich glioma inactivated 3 induces neurite outgrowth through Akt and focal adhesion kinase.", "journal": "Neurochemical research", "date": "2010", "authors": "Park WJ, Lim YY, Kwon NS, Baek KJ, Kim DS, Yun HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "20162351", "url": "https://glygen.org/publication/PubMed/20162351" } ] }, { "title": "Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2010", "authors": "Ozkaynak E, Abello G, Jaegle M, van Berge L, Hamer D, Kegel L, Driegen S, Sagane K, Bermingham JR Jr, Meijer D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "20220021", "url": "https://glygen.org/publication/PubMed/20220021" } ] }, { "title": "LGI3 interacts with flotillin-1 to mediate APP trafficking and exosome formation.", "journal": "Neuroreport", "date": "2010", "authors": "Okabayashi S, Kimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "20461023", "url": "https://glygen.org/publication/PubMed/20461023" } ] }, { "title": "LGI2 truncation causes a remitting focal epilepsy in dogs.", "journal": "PLoS genetics", "date": "2011", "authors": "Seppala EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "21829378", "url": "https://glygen.org/publication/PubMed/21829378" } ] }, { "title": "The mitochondrial and autosomal mutation landscapes of prostate cancer.", "journal": "European urology", "date": "2013", "authors": "Lindberg J, Mills IG, Klevebring D, Liu W, Neiman M, Xu J, Wikstrom P, Wiklund P, Wiklund F, Egevad L, Gronberg H", "evidence": [ { "database": "dbSNP", "id": "rs747229730", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747229730" } ], "reference": [ { "type": "PubMed", "id": "23265383", "url": "https://glygen.org/publication/PubMed/23265383" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "A0A0D9SFS5", "url": "https://www.uniprot.org/uniprot/A0A0D9SFS5" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.", "journal": "Neurol. Genet.", "date": "2016", "authors": "Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lonnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "27066583", "url": "https://glygen.org/publication/PubMed/27066583" } ] }, { "title": "Clinical characteristics of patients double positive for CASPR2 and LGI1-antibodies.", "journal": "Clinical neurology and neurosurgery", "date": "2020", "authors": "Jia Y, Shi H, Ye J, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "32911250", "url": "https://glygen.org/publication/PubMed/32911250" } ] }, { "title": "ADAM22/LGI1 complex as a new actionable target for breast cancer brain metastasis.", "journal": "BMC medicine", "date": "2020", "authors": "Charmsaz S, Doherty B, Cocchiglia S, Vareslija D, Marino A, Cosgrove N, Marques R, Priedigkeit N, Purcell S, Bane F, Bolger J, Byrne C, O'Halloran PJ, Brett F, Sheehan K, Brennan K, Hopkins AM, Keelan S, Jagust P, Madden S, Martinelli C, Battaglini M, Oesterreich S, Lee AV, Ciofani G, Hill ADK, Young LS", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "33208158", "url": "https://glygen.org/publication/PubMed/33208158" } ] }, { "title": "A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.", "journal": "CNS neuroscience & therapeutics", "date": "2022", "authors": "Hu P, Wu D, Zang YY, Wang Y, Zhou YP, Qiao F, Teng XY, Chen J, Li QQ, Sun JH, Liu T, Feng HY, Zhou QG, Shi YS, Xu Z", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "34767694", "url": "https://glygen.org/publication/PubMed/34767694" } ] }, { "title": "Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene.", "journal": "Neuroscience letters", "date": "2022", "authors": "Liu J, Hu D, Zhang Z, Tang F, Yan Y, Ma Y", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "35643238", "url": "https://glygen.org/publication/PubMed/35643238" } ] }, { "title": "Characterization of cardiac bradyarrhythmia associated with LGI1-IgG autoimmune encephalitis.", "journal": "Frontiers in immunology", "date": "2022", "authors": "Zhao-Fleming Hannah H, Zahid Anza, Lu Tong, Sun Xiaojing, Pittock Sean J, Lee Hon-Chi, Dubey Divyanshu", "evidence": [ { "database": "RefSeq", "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204" } ], "reference": [ { "type": "PubMed", "id": "36304459", "url": "https://glygen.org/publication/PubMed/36304459" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95970", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95970" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors.", "journal": "Oncogene", "date": "1998", "authors": "Chernova O B, Somerville R P, Cowell J K", "evidence": [ { "database": "UniProtKB", "id": "O95970", "url": "https://www.uniprot.org/uniprot/O95970" } ], "reference": [ { "type": "PubMed", "id": "9879993", "url": "https://glygen.org/publication/PubMed/9879993" } ] } ], "pathway": [ { "id": "hsa:9211", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9211", "resource": "KEGG Pathway" }, { "id": "R-HSA-5682910", "name": "LGI-ADAM interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910", "resource": "Reactome", "description": "LGI-ADAM interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8K4Y5-1", "protein_name": "Leucine-rich glioma-inactivated protein 1", "gene_name": "Lgi1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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