{ "uniprot_canonical_ac": "O14910-1", "uniprot_ac": "O14910", "uniprot_id": "LIN7A_HUMAN", "mass": { "chemical_mass": 25997.0, "monoisotopic_mass": 25997.0 }, "refseq": { "ac": "NP_004655", "name": "protein lin-7 homolog A isoform 1", "summary": "The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655" }, "gene_names": [ { "name": "LIN7A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14910", "id": "O14910" }, { "name": "LIN-7A; LIN7; MALS-1; MALS1; TIP-33; VELI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655", "id": "NP_004655" }, { "name": "LIN7A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655", "id": "NP_004655" }, { "name": "MALS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14910", "id": "O14910" }, { "name": "VELI1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14910", "id": "O14910" } ], "protein_names": [ { "name": "Protein lin-7 homolog A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14910" }, { "name": "Lin-7A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "MALS-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "Mammalian lin-seven protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "TIP-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "Tax interaction protein 33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "Veli-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "Vertebrate lin-7 homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "hLin-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14910" }, { "name": "protein lin-7 homolog A isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655", "id": "NP_004655" }, { "name": "vertebrate LIN7 homolog 1; tax interaction protein 33; mammalian lin-seven protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655", "id": "NP_004655" } ], "function": [ { "annotation": "MiR-501-3p suppresses metastasis and progression of hepatocellular carcinoma through targeting LIN7A. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655" }, { "database": "PubMed", "id": "29749382", "url": "https://glygen.org/publication/PubMed/29749382" } ] }, { "annotation": "Overexpression of LIN7 or IRSp53 did not prevent the formation of hyperfused mitochondria in cells coexpressing the Drp1 K38A mutant, thus suggesting that LIN7-IRSp53 complex requires functional Drp1 to regulate mitochondrial morphology.", "evidence": [ { "database": "RefSeq", "id": "NP_004655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655" }, { "database": "PubMed", "id": "27320196", "url": "https://glygen.org/publication/PubMed/27320196" } ] }, { "annotation": "Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.", "evidence": [ { "database": "UniProtKB", "id": "O14910", "url": "https://www.uniprot.org/uniprot/O14910#function" }, { "database": "PubMed", "id": "12967566", "url": "https://glygen.org/publication/PubMed/12967566" }, { "database": "UniProtKB", "id": "Q8JZS0", "url": "https://www.uniprot.org/uniprot/Q8JZS0#function" } ] }, { "annotation": "The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O14910", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14910" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 100, "end_pos": 100, "subjects_tested": "57", "subjects_positive": "1", "frequency": "1.8", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.8%).", "chr_id": "12", "chr_pos": "80845914", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S100", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.06", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "57.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "65.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "66.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111052", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111052" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14910" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", 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"url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14910" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14910" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14910" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O14910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14910" } ], "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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{ "database": "Ensembl Peptide", "id": "ENSP00000448891.1", "url": "https://www.ensembl.org/id/ENSP00000448891.1" } ] } }, { "isoform_ac": "H0YIA8-1", "url": "", "sequence": { "sequence": "TSAPTADMATLTVVQPLTLDRDVARAIELLEKLQESGEVPVHKLQSLKKVLQSEFCTAIREVYQYMHETITVNGCPEFRARATAKATVAAFAASEGHSHPRVVELPKTDEGLGFNVMGGKEQNSPIYISRIIPGGVAERHGGLKRGDQLLSVNGVLLRSQKQMETHVSSAIIGRENFFYP", "length": 180, "header": "tr|H0YIA8-1|LIN7A_HUMAN Computationally mapped isoform of Protein lin-7 homolog A OS=Homo sapiens OX=9606 GN=LIN7A PE=1 SV=1 CANONICAL=O14910-1" }, "locus": { "chromosome": "12", "start_pos": 80937704, "end_pos": 80842054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549417.5", "url": "https://www.ensembl.org/id/ENST00000549417.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448975.1", "url": "https://www.ensembl.org/id/ENSP00000448975.1" } ] } }, { "isoform_ac": "J3KN23-1", "url": "", "sequence": { "sequence": "MLKPSVTSAPTADMATLTVVQPLTLDRDVARAIELLEKLQESGEVPVHKLQSLKKVLQSEFCTAIREVYQYMHETITVNGCPEFRARATAKVFSCVHCKRI", "length": 101, "header": "tr|J3KN23-1|LIN7A_HUMAN Computationally mapped isoform of Protein lin-7 homolog A OS=Homo sapiens OX=9606 GN=LIN7A PE=1 SV=1 CANONICAL=O14910-1" }, "locus": { "chromosome": "12", "start_pos": 80937722, "end_pos": 80848146, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261203.7", "url": "https://www.ensembl.org/id/ENST00000261203.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000261203.3", "url": "https://www.ensembl.org/id/ENSP00000261203.3" } ] } }, { "isoform_ac": "O14910-1", "url": "", "sequence": { "sequence": "MLKPSVTSAPTADMATLTVVQPLTLDRDVARAIELLEKLQESGEVPVHKLQSLKKVLQSEFCTAIREVYQYMHETITVNGCPEFRARATAKATVAAFAASEGHSHPRVVELPKTDEGLGFNVMGGKEQNSPIYISRIIPGGVAERHGGLKRGDQLLSVNGVSVEGEHHEKAVELLKAAKDSVKLVVRYTPKVLEEMEARFEKLRTARRRQQQQLLIQQQQQQQQQQTQQNHMS", "length": 233, "header": "sp|O14910-1|LIN7A_HUMAN Isoform 1 of Protein lin-7 homolog A OS=Homo sapiens OX=9606 GN=LIN7A PE=1 SV=2 CANONICAL=O14910-1" }, "locus": { "chromosome": "12", "start_pos": 80937722, "end_pos": 80811468, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552864.6", "url": "https://www.ensembl.org/id/ENST00000552864.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000447488.1", "url": "https://www.ensembl.org/id/ENSP00000447488.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Characterization of MALS/Velis-1, -2, and -3: a family of mammalian LIN-7 homologs enriched at brain synapses in association with the postsynaptic density-95/NMDA receptor postsynaptic complex.", "journal": "J. Neurosci.", "date": "1999", "authors": "Jo K, Derin R, Li M, Bredt DS", "evidence": [ { "database": "UniProtKB", "id": "O14910", "url": "https://www.uniprot.org/uniprot/O14910" } ], "reference": [ { "type": "PubMed", "id": "10341223", "url": "https://glygen.org/publication/PubMed/10341223" } ] }, { "title": "VAM-1: a new member of the MAGUK family binds to human Veli-1 through a conserved domain.", "journal": "Biochim. Biophys. Acta", "date": "2001", "authors": "Tseng T C, Marfatia S M, Bryant P J, Pack S, Zhuang Z, O'Brien J E, Lin L, Hanada T, Chishti A H", "evidence": [ { "database": "UniProtKB", "id": "O14910", "url": "https://www.uniprot.org/uniprot/O14910" } ], "reference": [ { "type": "PubMed", "id": "11311936", "url": "https://glygen.org/publication/PubMed/11311936" } ] }, { "title": "CASK and protein 4.1 support F-actin nucleation on neurexins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Biederer T, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "11604393", "url": "https://glygen.org/publication/PubMed/11604393" } ] }, { "title": "Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "12519779", "url": "https://glygen.org/publication/PubMed/12519779" } ] }, { "title": "Polar expression of ErbB-2/HER2 in epithelia. Bimodal regulation by Lin-7.", "journal": "Developmental cell", "date": "2003-09", "authors": "Shelly Maya, Mosesson Yaron, Citri Ami, Lavi Sara, Zwang Yaara, Melamed-Book Naomi, Aroeti Benjamin, Yarden Yosef", "evidence": [ { "database": "UniProtKB", "id": "O14910", "url": "https://www.uniprot.org/uniprot/O14910" } ], "reference": [ { "type": "PubMed", "id": "12967566", "url": "https://glygen.org/publication/PubMed/12967566" } ] }, { "title": "Neuroligin 2 is exclusively localized to inhibitory synapses.", "journal": "European journal of cell biology", "date": "2004", "authors": "Varoqueaux F, Jamain S, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "15540461", "url": "https://glygen.org/publication/PubMed/15540461" } ] }, { "title": "Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation.", "journal": "Journal of neurochemistry", "date": "2005", "authors": "Toonen RF, de Vries KJ, Zalm R, Sudhof TC, Verhage M", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "15935055", "url": "https://glygen.org/publication/PubMed/15935055" } ] }, { "title": "A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins.", "journal": "Neuron", "date": "2005", "authors": "Boucard AA, Chubykin AA, Comoletti D, Taylor P, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16242404", "url": "https://glygen.org/publication/PubMed/16242404" } ] }, { "title": "Structure function and splice site analysis of the synaptogenic activity of the neurexin-1 beta LNS domain.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2006", "authors": "Graf ER, Kang Y, Hauner AM, Craig AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16624946", "url": "https://glygen.org/publication/PubMed/16624946" } ] }, { "title": "Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex.", "journal": "Neuron", "date": "2006", "authors": "Chih B, Gollan L, Scheiffele P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16846852", "url": "https://glygen.org/publication/PubMed/16846852" } ] }, { "title": "The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Bohl J, Brimer N, Lyons C, Vande Pol SB", "evidence": [ { "database": "UniProtKB", "id": "O14910", "url": "https://www.uniprot.org/uniprot/O14910" } ], "reference": [ { "type": "PubMed", "id": "17237226", "url": "https://glygen.org/publication/PubMed/17237226" } ] }, { "title": "How synaptotagmin promotes membrane fusion.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Martens S, Kozlov MM, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "17478680", "url": "https://glygen.org/publication/PubMed/17478680" } ] }, { "title": "PDZ protein interactions underlying NMDA receptor-mediated excitotoxicity and neuroprotection by PSD-95 inhibitors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Cui H, Hayashi A, Sun HS, Belmares MP, Cobey C, Phan T, Schweizer J, Salter MW, Wang YT, Tasker RA, Garman D, Rabinowitz J, Lu PS, Tymianski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609736", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609736" } ], "reference": [ { "type": "PubMed", "id": "17855605", "url": "https://glygen.org/publication/PubMed/17855605" } ] }, { "title": "Synaptotagmin activates membrane fusion through a Ca2+-dependent trans interaction with phospholipids.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Stein A, Radhakrishnan A, Riedel D, Fasshauer D, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "17891149", "url": "https://glygen.org/publication/PubMed/17891149" } ] }, { "title": "Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses.", "journal": "The European journal of neuroscience", "date": "2007", "authors": "Budreck EC, Scheiffele P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "17897391", "url": "https://glygen.org/publication/PubMed/17897391" } ] }, { "title": "Dual modes of Munc18-1/SNARE interactions are coupled by functionally critical binding to syntaxin-1 N terminus.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Khvotchev M, Dulubova I, Sun J, Dai H, Rizo J, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "17989281", "url": "https://glygen.org/publication/PubMed/17989281" } ] }, { "title": "Analysis of NR3A receptor subunits in human native NMDA receptors.", "journal": "Brain research", "date": "2007", "authors": "Nilsson A, Eriksson M, Muly EC, Akesson E, Samuelsson EB, Bogdanovic N, Benedikz E, Sundstrom E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609736", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609736" } ], "reference": [ { "type": "PubMed", "id": "17997397", "url": "https://glygen.org/publication/PubMed/17997397" } ] }, { "title": "Syntaxin 1A interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux.", "journal": "Molecular pharmacology", "date": "2008", "authors": "Binda F, Dipace C, Bowton E, Robertson SD, Lute BJ, Fog JU, Zhang M, Sen N, Colbran RJ, Gnegy ME, Gether U, Javitch JA, Erreger K, Galli A", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "18617632", "url": "https://glygen.org/publication/PubMed/18617632" } ] }, { "title": "Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Reissner C, Klose M, Fairless R, Missler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "18812509", "url": "https://glygen.org/publication/PubMed/18812509" } ] }, { "title": "The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2008", "authors": "Haeckel A, Ahuja R, Gundelfinger ED, Qualmann B, Kessels MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "18829961", "url": "https://glygen.org/publication/PubMed/18829961" } ] }, { "title": "LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formation.", "journal": "Neuron", "date": "2009", "authors": "Ko J, Fuccillo MV, Malenka RC, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20064387", "url": "https://glygen.org/publication/PubMed/20064387" } ] }, { "title": "LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formation.", "journal": "Neuron", "date": "2009", "authors": "de Wit J, Sylwestrak E, O'Sullivan ML, Otto S, Tiglio K, Savas JN, Yates JR 3rd, Comoletti D, Taylor P, Ghosh A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20064388", "url": "https://glygen.org/publication/PubMed/20064388" } ] }, { "title": "LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse development.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2010", "authors": "Siddiqui TJ, Pancaroglu R, Kang Y, Rooyakkers A, Craig AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20519524", "url": "https://glygen.org/publication/PubMed/20519524" } ] }, { "title": "Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Hoon M, Soykan T, Falkenburger B, Hammer M, Patrizi A, Schmidt KF, Sassoe-Pognetto M, Lowel S, Moser T, Taschenberger H, Brose N, Varoqueaux F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": 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"NP_004655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655" } ], "reference": [ { "type": "PubMed", "id": "27320196", "url": "https://glygen.org/publication/PubMed/27320196" } ] }, { "title": "microRNA-501-3p suppresses metastasis and progression of hepatocellular carcinoma through targeting LIN7A.", "journal": "Cell death & disease", "date": "2018", "authors": "Luo C, Yin D, Zhan H, Borjigin U, Li C, Zhou Z, Hu Z, Wang P, Sun Q, Fan J, Zhou J, Wang X, Zhou S, Huang X", "evidence": [ { "database": "RefSeq", "id": "NP_004655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655" } ], "reference": [ { "type": "PubMed", "id": "29749382", "url": "https://glygen.org/publication/PubMed/29749382" } ] }, { "title": "Structural Basis of the Proton Sensitivity of Human GluN1-GluN2A NMDA Receptors.", "journal": "Cell reports", "date": "2018", "authors": "Zhang JB, Chang S, Xu P, Miao M, Wu H, Zhang Y, Zhang T, Wang H, Zhang J, Xie C, Song N, Luo C, Zhang X, Zhu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609736", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609736" } ], "reference": [ { "type": "PubMed", "id": "30590034", "url": "https://glygen.org/publication/PubMed/30590034" } ] }, { "title": "Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.", "journal": "Neuron", "date": "1995", "authors": "Ullrich B, Ushkaryov YA, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "7695896", "url": "https://glygen.org/publication/PubMed/7695896" } ] }, { "title": "Neuroligin 1: a splice site-specific ligand for beta-neurexins.", "journal": "Cell", "date": "1995", "authors": "Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": 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