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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NDA9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NDA9" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NDA9" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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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": "A6NDA9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NDA9" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A6NDA9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NDA9" } ], "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/A6NDA9" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NDA9", "url": "https://www.uniprot.org/uniprot/A6NDA9" } ], "common_name": "Human" } ], "gene": [ { "name": "LRIT2", "url": "https://www.uniprot.org/uniprot/A6NDA9", "locus": { "chromosome": "10", "start_pos": 84220571, "end_pos": 84225544, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000204033", "url": "https://www.ensembl.org/id/ENSG00000204033" } ] } } ], "crossref": [ { "id": "ENSG00000204033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204033", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A6NDA9", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NDA9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "LRIT2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "340745", "url": "https://www.ncbi.nlm.nih.gov/gene/340745", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "23443", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23443", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000483", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000483", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001611", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001611", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003591", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003591", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020901", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020901", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032675", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032675", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:340745", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:340745", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A6NDA9", "url": "https://www.nextprot.org/entry/NX_A6NDA9", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GITLEWH", "url": "https://omabrowser.org/oma/group/GITLEWH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3678698at2759", "url": "http://www.orthodb.org/?query=3678698at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45842", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45842", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45842:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45842:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00560", "url": "http://pfam.xfam.org/family/PF00560", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13855", "url": "http://pfam.xfam.org/family/PF13855", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NDA9", "url": "https://pharos.nih.gov/targets/A6NDA9", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NDA9", "url": "http://purl.obolibrary.org/obo/PR_A6NDA9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001017924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017924", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A6NDA9", "url": "https://www.uniprot.org/uniprot/A6NDA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NDA9-1", "url": "https://www.uniprot.org/uniprot/A6NDA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NDA9-2", "url": "https://www.uniprot.org/uniprot/A6NDA9-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASVFHYFLLVLVFLDTHAAQPFCLPGCTCSEESFGRTLQCTSVSLGKIPGNLSEEFKQVRIENSPLFEMPQGSFINMSTLEYLWLNFNNISVIHLGALEHLPELRELRLEGNKLCSVPWTAFRATPLLRVLDLKRNKIDALPELALQFLVSLTYLDLSSNRLTVVSKSVFLNWPAYQKCRQPDCGAEILSSLVVALHDNPWVCDCRLRGLVQFVKSITLPVILVNSYLICQGPLSKAGQLFHETELSACMKPQISTPSANITIRAGQNVTLRCLAQASPSPSIAWTYPLSMWREFDVLTSSTGEDTALSELAIPAAHLVDSGNYTCMASNSIGKSNLVISLHVQPAQALHAPDSLSIPSEGNAYIDLRVVKQTVHGILLEWLAVADTSKEEWFTLYIASDEAFRKEVVHIGPGINTYAVDDLLPGTKYEACLSLEGQPPHQGQCVAFVTGRDAGGLEAREHLLHVTVVLCVVLLAVPVGAYAWAAQGPCSCSKWVLRGCLHRRKAPSCTPAAPQSKDGSFREHPAVCDDGEGHIDTEGDKEKGGTEDNS", "length": 550, "header": "sp|A6NDA9-1|LRIT2_HUMAN Isoform 1 of Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 OS=Homo sapiens OX=9606 GN=LRIT2 PE=2 SV=1 CANONICAL=A6NDA9-1" }, "isoforms": [ { "isoform_ac": "A6NDA9-1", "url": "", "sequence": { "sequence": "MASVFHYFLLVLVFLDTHAAQPFCLPGCTCSEESFGRTLQCTSVSLGKIPGNLSEEFKQVRIENSPLFEMPQGSFINMSTLEYLWLNFNNISVIHLGALEHLPELRELRLEGNKLCSVPWTAFRATPLLRVLDLKRNKIDALPELALQFLVSLTYLDLSSNRLTVVSKSVFLNWPAYQKCRQPDCGAEILSSLVVALHDNPWVCDCRLRGLVQFVKSITLPVILVNSYLICQGPLSKAGQLFHETELSACMKPQISTPSANITIRAGQNVTLRCLAQASPSPSIAWTYPLSMWREFDVLTSSTGEDTALSELAIPAAHLVDSGNYTCMASNSIGKSNLVISLHVQPAQALHAPDSLSIPSEGNAYIDLRVVKQTVHGILLEWLAVADTSKEEWFTLYIASDEAFRKEVVHIGPGINTYAVDDLLPGTKYEACLSLEGQPPHQGQCVAFVTGRDAGGLEAREHLLHVTVVLCVVLLAVPVGAYAWAAQGPCSCSKWVLRGCLHRRKAPSCTPAAPQSKDGSFREHPAVCDDGEGHIDTEGDKEKGGTEDNS", "length": 550, "header": "sp|A6NDA9-1|LRIT2_HUMAN Isoform 1 of Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 OS=Homo sapiens OX=9606 GN=LRIT2 PE=2 SV=1 CANONICAL=A6NDA9-1" }, "locus": { "chromosome": "10", "start_pos": 84225520, "end_pos": 84221923, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372113.7", "url": "https://www.ensembl.org/id/ENST00000372113.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000361185.3", "url": "https://www.ensembl.org/id/ENSP00000361185.3" } ] } }, { "isoform_ac": "A6NDA9-2", "url": "", "sequence": { "sequence": "MASVFHYFLLVLVFLDTHAAQPFCLPGCTCSEESFGRTLQCTSVSLGKIPGNLSEEFKQVRIENSPLFEMPQGSFINMSTLEYLWLNFNNISVIHLGALEHLPELRELRLEGNKLCSVPWTAFRATPLLRVLDLKRNKIDALPELALQFLVSLTYLDLSSNRLTVVSKSVFLNWPAYQKCRQPDCGAEILSSLVVALHDNPWVCDCRLRGLVQFVKSITLPVILVNSYLICQGPLSKAGQLFHETELSACMKPQISTPSANITIRAGQNVTLRCLAQASPSPSIAWTYPLSMWREFDGLLGGKHLTPVLTSSTGEDTALSELAIPAAHLVDSGNYTCMASNSIGKSNLVISLHVQPAQALHAPDSLSIPSEGNAYIDLRVVKQTVHGILLEWLAVADTSKEEWFTLYIASDEAFRKEVVHIGPGINTYAVDDLLPGTKYEACLSLEGQPPHQGQCVAFVTGRDAGGLEAREHLLHVTVVLCVVLLAVPVGAYAWAAQGPCSCSKWVLRGCLHRRKAPSCTPAAPQSKDGSFREHPAVCDDGEGHIDTEGDKEKGGTEDNS", "length": 560, "header": "sp|A6NDA9-2|LRIT2_HUMAN Isoform 2 of Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 OS=Homo sapiens OX=9606 GN=LRIT2 PE=2 SV=1 CANONICAL=A6NDA9-1" }, "locus": { "chromosome": "10", "start_pos": 84225520, "end_pos": 84221923, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538192.5", "url": "https://www.ensembl.org/id/ENST00000538192.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438264.1", "url": "https://www.ensembl.org/id/ENSP00000438264.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "A6NDA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NDA9#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "New genetic associations detected in a host response study to hepatitis B vaccine.", "journal": "Genes and immunity", "date": "2010", "authors": "Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M", "evidence": [ { "database": "RefSeq", "id": "NP_001017924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017924" } ], "reference": [ { "type": "PubMed", "id": "20237496", "url": "https://glygen.org/publication/PubMed/20237496" } ] } ], "pathway": [ { "id": "hsa:340745", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:340745", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A7B9-1", "protein_name": "Leucine-rich repeat, Ig-like and transmembrane domains 2", "gene_name": "Lrit2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAFVFYCFLQVLVSWVTHAARPLCLSECTCSEESFGRSLQCMSMSLGKIPDNFPEGLKQVRIEKSPLFELPQGVFTNLNTLEYLWLNFNNVTVIHLGALEDLPQLRELRLEGNRLRSVPWTAFRATPFLRVLDLKHNRIDALPELALQFLANLTYLDISSNRLTVVSKGVFLNWPAYQKRQQLGCGAEILSHMVLSLHNNPWLCDCRLTGLAQFVKSVGPPFILVNSYLICQGPVSKAGQLLHETELGDCMKPIISTPSANVSIQVGKNVTLQCLAQASPSPTIEWKYPLSTWRKFDVLALPVAEGFILSQLVIPAAQLVDGTNYTCMASNSIGRSSLVITLYVQPAQATPGLHSLSTSSEGSSYVDLRVVKQTVHGILLEWLTVTNLAGEQWFTLYIASDEALEKKVVHIGPGINTYAVDDLLPATKYKACLGLRNQPPGQGQCVVFVTGKGSGELEGREHLLHVTVVLCAVLLALPVGAYVWATQGPCNCSEWCFRCFPLHRKTLRCPQAVPQCKDNSFTDPSAVCEDCESHRVVEEDEEREKEGTS", "length": 549 }, "evidence": [ { "id": "45926261", "url": "http://www.informatics.jax.org/homology/45926261", "database": "MGI" }, { "id": "A6NDA9", "url": "https://omabrowser.org/oma/group/A6NDA9/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6PFC5-1", "protein_name": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2", "gene_name": "Lrit2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAFVFYCFLQVLVSWVIHAVQPFCLPECTCSEESFGRSLQCMSMSLGKIPDNFPEELKQVRIENSPLFELSQGFFTNMSSLEYLWLNFNNVTVIHLGALEDLPELRELRLEGNKLRSVPWTAFRATPLLRVLDLKHNRIDSVPELALQFLTNLIYLDISSNRLTVVSKGVFLNWPAYQKRQQLGCGAEFLSNMVLSLHNNPWLCDCRLRGLAQFVKSVGPPFILVNSYLVCQGPVSKAGQLLHETELGVCMKPTISTPSVNVTIQVGKNVTLQCFAQASPSPTIAWKYPLSTWREFDVLASPIAEGIILSQLVIPAAQLVDGGNYTCMAFNSIGRSSLVILLYVQPAQAMPGLHFLSTSSEVSAYVDLRVVKQTVHGILLQWLTVTNLAEEQWFTLYITSDEALRKKVVHIGPGINTYAVDDLLPATKYKACLSLRNQPPSQGQCVVFVTGKDSGGLEGREHLLHVTVVLCAVLLALPVGAYVWVSQGPYNFSEWCWRRCPLHRKTLRCPQAVPQCKDNSFKDPSGVYEDGESHRVMEEDEEVEKEGIS", "length": 549 }, "evidence": [ { "id": "45926261", "url": "http://www.informatics.jax.org/homology/45926261", "database": "MGI" }, { "id": "A6NDA9", "url": "https://omabrowser.org/oma/group/A6NDA9/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A6NDA9", "url": "https://www.uniprot.org/uniprot/A6NDA9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 261, "end_pos": 263, "annotation": "n_glycosylation_sequon" }, { "start_pos": 269, "end_pos": 271, "annotation": "n_glycosylation_sequon" }, { "start_pos": 324, "end_pos": 326, "annotation": "n_glycosylation_sequon" }, { "start_pos": 52, "end_pos": 54, "annotation": "n_glycosylation_sequon" }, { "start_pos": 77, "end_pos": 79, "annotation": "n_glycosylation_sequon" }, { "start_pos": 90, "end_pos": 92, "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": [ 52 ], "o_linked_sites": [], "snv_sites": [ 52, 53, 54, 66, 139, 152, 157, 220, 333, 518 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 261, "end_pos": 263 }, { "start_pos": 269, "end_pos": 271 }, { "start_pos": 324, "end_pos": 326 }, { "start_pos": 52, "end_pos": 54 }, { "start_pos": 77, "end_pos": 79 }, { "start_pos": 90, "end_pos": 92 } ] }, "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": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }