{ "uniprot_canonical_ac": "P0CG36-1", "uniprot_ac": "P0CG36", "uniprot_id": "CFC1B_HUMAN", "mass": { "chemical_mass": 24642.0, "monoisotopic_mass": 24642.0 }, "refseq": { "ac": "NP_001072998", "name": "cryptic family protein 1B precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072998" }, "gene_names": [ { "name": "CFC1B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0CG36", "id": "P0CG36" }, { "name": "CFC1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072998", "id": "NP_001072998" } ], "protein_names": [ { "name": "Cryptic family protein 1B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0CG36" }, { "name": "cryptic family protein 1B precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072998", "id": "NP_001072998" }, { "name": "cryptic family protein 1B; cripto, FRL-1, cryptic family 1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072998", "id": "NP_001072998" } ], "function": [], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "42.86", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "14.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "18.36", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "14.63", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0CG36", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG36" } ], "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 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "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, 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": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0CG36", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG36" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "common_name": "Human" } ], "gene": [ { "name": "CFC1B", "url": "https://www.uniprot.org/uniprot/P0CG36", "locus": { "chromosome": "2", "start_pos": 130528604, "end_pos": 130521197, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000152093", "url": "https://www.ensembl.org/id/ENSG00000152093" } ] } } ], "crossref": [ { "id": "ENSG00000152093", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152093", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CFC1B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFC1B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "653275", "url": "https://www.ncbi.nlm.nih.gov/gene/653275", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "33983", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=33983", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:653275", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:653275", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_P0CG36", "url": "https://www.nextprot.org/entry/NX_P0CG36", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "SENTQNC", "url": "https://omabrowser.org/oma/group/SENTQNC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2970545at2759", "url": "http://www.orthodb.org/?query=2970545at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14949", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14949", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14949:SF25", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14949:SF25", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF09443", "url": "http://pfam.xfam.org/family/PF09443", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0CG36", "url": "https://pharos.nih.gov/targets/P0CG36", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P0CG36", "url": "http://purl.obolibrary.org/obo/PR_P0CG36", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001072998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072998", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WWE4", "url": "https://www.uniprot.org/uniprot/A0A087WWE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WWE4-1", "url": "https://www.uniprot.org/uniprot/A0A087WWE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X0G3", "url": "https://www.uniprot.org/uniprot/A0A087X0G3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X0G3-1", "url": "https://www.uniprot.org/uniprot/A0A087X0G3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CG36-1", "url": "https://www.uniprot.org/uniprot/P0CG36-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSWAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 223, "header": "sp|P0CG36-1|CFC1B_HUMAN Isoform 1 of Cryptic family protein 1B OS=Homo sapiens OX=9606 GN=CFC1B PE=3 SV=1 CANONICAL=P0CG36-1" }, "isoforms": [ { "isoform_ac": "A0A087WWE4-1", "url": "", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSWAFGEDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 148, "header": "tr|A0A087WWE4-1|A0A087WWE4_HUMAN Computationally mapped isoform of Cripto, FRL-1, cryptic family 1B OS=Homo sapiens OX=9606 GN=CFC1B PE=4 SV=1 CANONICAL=P0CG36-1" }, "locus": { "chromosome": "2", "start_pos": 130527892, "end_pos": 130521485, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620207.1", "url": "https://www.ensembl.org/id/ENST00000620207.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000480160.1", "url": "https://www.ensembl.org/id/ENSP00000480160.1" } ] } }, { "isoform_ac": "A0A087X0G3-1", "url": "", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSWAFGEVNAAPWSTEPGPSAPATSAGASSGPCTASPSRRLTAVTRKTSWPPTLTGRAPGARPACYSCCPAHSCTASCARMRPRTLGPWSLPSSSGSGAPAEGRDLGIAFNFLCCK", "length": 191, "header": "tr|A0A087X0G3-1|A0A087X0G3_HUMAN Computationally mapped isoform of Cripto, FRL-1, cryptic family 1B OS=Homo sapiens OX=9606 GN=CFC1B PE=4 SV=1 CANONICAL=P0CG36-1" }, "locus": { "chromosome": "2", "start_pos": 130527911, "end_pos": 130521485, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619050.4", "url": "https://www.ensembl.org/id/ENST00000619050.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483368.1", "url": "https://www.ensembl.org/id/ENSP00000483368.1" } ] } }, { "isoform_ac": "P0CG36-1", "url": "", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSWAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 223, "header": "sp|P0CG36-1|CFC1B_HUMAN Isoform 1 of Cryptic family protein 1B OS=Homo sapiens OX=9606 GN=CFC1B PE=3 SV=1 CANONICAL=P0CG36-1" }, "locus": { "chromosome": "2", "start_pos": 130527892, "end_pos": 130521485, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000281882.8", "url": "https://www.ensembl.org/id/ENST00000281882.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000281882.3", "url": "https://www.ensembl.org/id/ENSP00000281882.3" } ] } } ], "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": "P0CG36", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CG36#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [], "pathway": [ { "id": "hsa:653275", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:653275", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GC89-1", "protein_name": "Cripto, FRL-1, cryptic family 1", "gene_name": "Cfc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRGNSATQGVGLKTNGARPLFLMTVALQLIRPGNSYQREGDGAREISYLLSPKLPGTTLDGTLSSSSRKNDSQEGAHPSEALSGSNTLEESAVPGSRCCHNGGTCVLGSFCVCPAHFTGRYCEHDQRHRDCGALGHGAWTLHSCRLCRCIFSALYCLPRQTFSHCDLKSFLSSGARGSRACSIPRLLLLVLCLLLQVVCGW", "length": 201 }, "evidence": [ { "id": "45933335", "url": "http://www.informatics.jax.org/homology/45933335", "database": "MGI" }, { "id": "P0CG36", "url": "https://omabrowser.org/oma/group/P0CG36/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P0CG37-1", "protein_name": "Cryptic protein", "gene_name": "CFC1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 223 }, "evidence": [ { "id": "45933335", "url": "http://www.informatics.jax.org/homology/45933335", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P97766-1", "protein_name": "Cryptic protein", "gene_name": "Cfc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRANSPTQGISLKMHQARPLFLVTVALQLIGLGYSYQSEGDGAREVSNILSPVIPGTTLDRTLSNSSRKNDIPEGARLWDSLPDSSTLGESAVPVSRCCHNGGTCVLGSFCVCPAYFTGRYCEHDQRRRDCGALGHGAWTLHSCRLCRCIFSALYCLPHQTFSHCDLKSFLSSGARGSRECSIPSLLLLVLCLLLQGVAGKG", "length": 202 }, "evidence": [ { "id": "45933335", "url": "http://www.informatics.jax.org/homology/45933335", "database": "MGI" }, { "id": "P0CG36", "url": "https://omabrowser.org/oma/group/P0CG36/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "nodal signaling pathway", "id": "GO:0038092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038092", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "nodal binding", "id": "GO:0038100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038100", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" }, { "name": "activin receptor binding", "id": "GO:0070697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070697", "evidence": [ { "database": "UniProtKB", "id": "P0CG36", "url": "https://www.uniprot.org/uniprot/P0CG36" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 52, "end_pos": 54, "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": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 52, "end_pos": 54 } ] }, "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": 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