{ "uniprot_canonical_ac": "A0A183-1", "uniprot_ac": "A0A183", "uniprot_id": "LCE6A_HUMAN", "mass": { "chemical_mass": 9022.0, "monoisotopic_mass": 9022.0 }, "refseq": { "ac": "NP_001122072", "name": "late cornified envelope protein 6A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122072" }, "gene_names": [ { "name": "LCE6A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A183", "id": "A0A183" }, { "name": "C1orf44", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122072", "id": "NP_001122072" }, { "name": "C1orf44", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A183", "id": "A0A183" }, { "name": "LCE6A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122072", "id": "NP_001122072" } ], "protein_names": [ { "name": "Late cornified envelope protein 6A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A183" }, { "name": "late cornified envelope protein 6A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122072", "id": "NP_001122072" } ], "function": [ { "annotation": "Describes neighboring LCE family members that are present in the same cluster on chromosome 1q21.", "evidence": [ { "database": "RefSeq", "id": "NP_001122072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122072" }, { "database": "PubMed", "id": "15854049", "url": "https://glygen.org/publication/PubMed/15854049" } ] }, { "annotation": "Precursors of the cornified envelope of the stratum corneum.", "evidence": [ { "database": "UniProtKB", "id": "A0A183", "url": "https://www.uniprot.org/uniprot/A0A183#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1262236079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262236079" }, { "id": "rs1262236079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262236079" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 8, "end_pos": 8, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "152843542", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S8", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "44.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "58.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "24.75", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "24.09", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "25.58", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "30.72", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "29.11", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000235942", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000235942" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A0A183", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0A183" } ], "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", 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