{ "uniprot_canonical_ac": "P07992-1", "uniprot_ac": "P07992", "uniprot_id": "ERCC1_HUMAN", "mass": { "chemical_mass": 32562.0, "monoisotopic_mass": 32562.0 }, "refseq": { "ac": "NP_001159521", "name": "DNA excision repair protein ERCC-1 isoform 3", "summary": "The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521" }, "gene_names": [ { "name": "ERCC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07992", "id": "P07992" }, { "name": "COFS4; RAD10; UV20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521", "id": "NP_001159521" }, { "name": "ERCC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521", "id": "NP_001159521" } ], "protein_names": [ { "name": "DNA excision repair protein ERCC-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07992" }, { "name": "DNA excision repair protein ERCC-1 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521", "id": "NP_001159521" }, { "name": "DNA excision repair protein ERCC-1; excision repair cross-complementation group 1; excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521", "id": "NP_001159521" } ], "function": [ { "annotation": "ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and FOLFOX Response in Colorectal Cancer Patients from South Tunisia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521" }, { "database": "PubMed", "id": "37510370", "url": "https://glygen.org/publication/PubMed/37510370" } ] }, { "annotation": "Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521" }, { "database": "PubMed", "id": "36708557", "url": "https://glygen.org/publication/PubMed/36708557" } ] }, { "annotation": "Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso.", "evidence": [ { "database": "RefSeq", "id": "NP_001159521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521" }, { "database": "PubMed", "id": "36594475", "url": "https://glygen.org/publication/PubMed/36594475" } ] }, { "annotation": "Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992#function" }, { "database": "PubMed", "id": "24036546", "url": "https://glygen.org/publication/PubMed/24036546" }, { "database": "PubMed", "id": "23623389", "url": "https://glygen.org/publication/PubMed/23623389" }, { "database": "PubMed", "id": "17273966", "url": "https://glygen.org/publication/PubMed/17273966" } ] }, { "annotation": "Not functional in the nucleotide excision repair pathway.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992#function" }, { "database": "PubMed", "id": "24036546", "url": "https://glygen.org/publication/PubMed/24036546" } ] }, { "annotation": "Perspectives of ERCC1 in early-stage and advanced cervical cancer: From experiments to clinical applications. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521" }, { "database": "PubMed", "id": "36713431", "url": "https://glygen.org/publication/PubMed/36713431" } ] }, { "annotation": "The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001159521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521" } ] } ], "disease": [ { "disease_id": "DOID:0080914", "recommended_name": { "id": "DOID:0080914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080914", "name": "cerebrooculofacioskeletal syndrome 4", "description": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13." }, "synonyms": [ { "id": "MONDO:0012554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012554", "name": "cerebrooculofacioskeletal syndrome 4", "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." }, { "id": "MONDO:0012554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012554", "name": "COFS syndrome caused by mutation in ERCC1", "description": "" }, { "id": "MONDO:0012554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012554", "name": "COFS4", "description": "" }, { "id": "MONDO:0012554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012554", "name": "ERCC1 COFS syndrome", "description": "" }, { "id": "MONDO:0012554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012554", "name": "cerebrooculofacioskeletal syndrome 4", "description": "" }, { "id": "MONDO:0012554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012554", "name": "cerebrooculofacioskeletal syndrome type 4", "description": "" }, { "id": "MIM:610758", "resource": "MIM", "url": "https://www.omim.org/entry/610758", "name": "Cerebro-oculo-facio-skeletal syndrome 4", "description": "Cerebro-oculo-facio-skeletal syndrome 4" } ], "evidence": [ { "id": "610758", "database": "MIM", "url": "https://www.omim.org/entry/610758" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 221, "end_pos": 221, "sequence_org": "D", "sequence_mut": "A", "comment": "Impaired interaction with ERCC4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" }, { "database": "PubMed", "id": "32034146", "url": "https://glygen.org/publication/PubMed/32034146" } ] }, { "start_pos": 223, "end_pos": 223, "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired interaction with ERCC4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" }, { "database": "PubMed", "id": "32034146", "url": "https://glygen.org/publication/PubMed/32034146" } ] }, { "start_pos": 224, "end_pos": 224, "sequence_org": "M", "sequence_mut": "A", "comment": "Impaired interaction with ERCC4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" }, { "database": "PubMed", "id": "32034146", "url": "https://glygen.org/publication/PubMed/32034146" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "E", "sequence_mut": "A", "comment": "Impaired interaction with ERCC4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" }, { "database": "PubMed", "id": "32034146", "url": "https://glygen.org/publication/PubMed/32034146" } ] }, { "start_pos": 227, "end_pos": 227, "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired interaction with ERCC4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" }, { "database": "PubMed", "id": "32034146", "url": "https://glygen.org/publication/PubMed/32034146" } ] }, { "start_pos": 228, "end_pos": 228, "sequence_org": "E", "sequence_mut": "A", "comment": "Impaired interaction with ERCC4.", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" }, { "database": "PubMed", "id": "32034146", "url": "https://glygen.org/publication/PubMed/32034146" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012061" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "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", "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", 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"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 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"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 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"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, 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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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "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", 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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 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"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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P07992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07992" } ], "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": "" }, 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"https://www.rcsb.org/structure/2JPD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2MUT", "url": "https://www.rcsb.org/structure/2MUT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SXA", "url": "https://www.rcsb.org/structure/6SXA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SXB", "url": "https://www.rcsb.org/structure/6SXB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03834", "url": "http://pfam.xfam.org/family/PF03834", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14520", "url": "http://pfam.xfam.org/family/PF14520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07992", "url": "https://pharos.nih.gov/targets/P07992", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07992", "url": "http://purl.obolibrary.org/obo/PR_P07992", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5696400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696400", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6782135", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782135", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001159521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159521", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0AA34QVL1", "url": "https://www.uniprot.org/uniprot/A0AA34QVL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QVL1-1", "url": "https://www.uniprot.org/uniprot/A0AA34QVL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJL2", "url": "https://www.uniprot.org/uniprot/K7EJL2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJL2-1", "url": "https://www.uniprot.org/uniprot/K7EJL2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJW9", "url": "https://www.uniprot.org/uniprot/K7EJW9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJW9-1", "url": "https://www.uniprot.org/uniprot/K7EJW9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK97", "url": "https://www.uniprot.org/uniprot/K7EK97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK97-1", "url": "https://www.uniprot.org/uniprot/K7EK97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMT9", "url": "https://www.uniprot.org/uniprot/K7EMT9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMT9-1", "url": "https://www.uniprot.org/uniprot/K7EMT9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EP14", "url": "https://www.uniprot.org/uniprot/K7EP14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EP14-1", "url": "https://www.uniprot.org/uniprot/K7EP14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER60", "url": "https://www.uniprot.org/uniprot/K7ER60", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER60-1", "url": "https://www.uniprot.org/uniprot/K7ER60-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER89", "url": "https://www.uniprot.org/uniprot/K7ER89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ER89-1", "url": "https://www.uniprot.org/uniprot/K7ER89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES46", "url": "https://www.uniprot.org/uniprot/K7ES46", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES46-1", "url": "https://www.uniprot.org/uniprot/K7ES46-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07992-1", "url": "https://www.uniprot.org/uniprot/P07992-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07992-2", "url": "https://www.uniprot.org/uniprot/P07992-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07992-3", "url": "https://www.uniprot.org/uniprot/P07992-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07992-4", "url": "https://www.uniprot.org/uniprot/P07992-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP", "length": 297, "header": "sp|P07992-1|ERCC1_HUMAN Isoform 1 of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "isoforms": [ { "isoform_ac": "A0AA34QVL1-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQIPSRPSRSWLRCVSWPTAH", "length": 126, "header": "tr|A0AA34QVL1-1|A0AA34QVL1_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=4 SV=1 CANONICAL=P07992-1" }, "locus": {} }, { "isoform_ac": "K7EJL2-1", "url": "", "sequence": { "sequence": "FGDVIPDYVLGQSTCALFLRAPGTCSPLEAQVSSPLHEEARGLVF", "length": 45, "header": "tr|K7EJL2-1|K7EJL2_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=4 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45420382, "end_pos": 45419414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587888.5", "url": "https://www.ensembl.org/id/ENST00000587888.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465225.1", "url": "https://www.ensembl.org/id/ENSP00000465225.1" } ] } }, { "isoform_ac": "K7EJW9-1", "url": "", "sequence": { "sequence": "XCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRSLEQLIAASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSGFRL", "length": 112, "header": "tr|K7EJW9-1|ERCC1_HUMAN Computationally mapped isoform of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45416859, "end_pos": 45413549, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592444.5", "url": "https://www.ensembl.org/id/ENST00000592444.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465354.1", "url": "https://www.ensembl.org/id/ENSP00000465354.1" } ] } }, { "isoform_ac": "K7EK97-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFL", "length": 141, "header": "tr|K7EK97-1|K7EK97_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45420326, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589214.1", "url": "https://www.ensembl.org/id/ENST00000589214.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465524.1", "url": "https://www.ensembl.org/id/ENSP00000465524.1" } ] } }, { "isoform_ac": "K7EMT9-1", "url": "", "sequence": { "sequence": "XNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSLWNSSSPHQEKIWPYAQAWALRKPGGCLMSCTSPS", "length": 91, "header": "tr|K7EMT9-1|ERCC1_HUMAN Computationally mapped isoform of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45419186, "end_pos": 45409688, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590701.5", "url": "https://www.ensembl.org/id/ENST00000590701.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466644.1", "url": "https://www.ensembl.org/id/ENSP00000466644.1" } ] } }, { "isoform_ac": "K7EP14-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFG", "length": 258, "header": "tr|K7EP14-1|K7EP14_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45413963, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592083.5", "url": "https://www.ensembl.org/id/ENST00000592083.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467183.1", "url": "https://www.ensembl.org/id/ENSP00000467183.1" } ] } }, { "isoform_ac": "K7ER60-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWRPGGCLMSCTSPS", "length": 213, "header": "tr|K7ER60-1|K7ER60_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45409689, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591636.5", "url": "https://www.ensembl.org/id/ENST00000591636.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468119.1", "url": "https://www.ensembl.org/id/ENSP00000468119.1" } ] } }, { "isoform_ac": "K7ER89-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSR", "length": 234, "header": "tr|K7ER89-1|K7ER89_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45414861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592023.5", "url": "https://www.ensembl.org/id/ENST00000592023.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468158.1", "url": "https://www.ensembl.org/id/ENSP00000468158.1" } ] } }, { "isoform_ac": "K7ES46-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQK", "length": 209, "header": "tr|K7ES46-1|K7ES46_HUMAN Computationally mapped isoform of ERCC excision repair 1, endonuclease non-catalytic subunit OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45413677, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589381.5", "url": "https://www.ensembl.org/id/ENST00000589381.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468548.1", "url": "https://www.ensembl.org/id/ENSP00000468548.1" } ] } }, { "isoform_ac": "P07992-1", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP", "length": 297, "header": "sp|P07992-1|ERCC1_HUMAN Isoform 1 of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45409678, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589165.5", "url": "https://www.ensembl.org/id/ENST00000589165.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468035.1", "url": "https://www.ensembl.org/id/ENSP00000468035.1" } ] } }, { "isoform_ac": "P07992-2", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP", "length": 273, "header": "sp|P07992-2|ERCC1_HUMAN Isoform 2 of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45409678, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340192.11", "url": "https://www.ensembl.org/id/ENST00000340192.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000345203.6", "url": "https://www.ensembl.org/id/ENSP00000345203.6" } ] } }, { "isoform_ac": "P07992-3", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSGFRL", "length": 323, "header": "sp|P07992-3|ERCC1_HUMAN Isoform 3 of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45413551, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000013807.9", "url": "https://www.ensembl.org/id/ENST00000013807.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000013807.4", "url": "https://www.ensembl.org/id/ENSP00000013807.4" } ] } }, { "isoform_ac": "P07992-4", "url": "", "sequence": { "sequence": "MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP", "length": 225, "header": "sp|P07992-4|ERCC1_HUMAN Isoform 4 of DNA excision repair protein ERCC-1 OS=Homo sapiens OX=9606 GN=ERCC1 PE=1 SV=1 CANONICAL=P07992-1" }, "locus": { "chromosome": "19", "start_pos": 45423374, "end_pos": 45409678, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423698.6", "url": "https://www.ensembl.org/id/ENST00000423698.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000394875.2", "url": "https://www.ensembl.org/id/ENSP00000394875.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Radiation-induced assembly of Rad51 and Rad52 recombination complex requires ATM and c-Abl.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chen G, Yuan SS, Liu W, Xu Y, Trujillo K, Song B, Cong F, Goff SP, Wu Y, Arlinghaus R, Baltimore D, Gasser PJ, Park MS, Sung P, Lee EY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10212258", "url": "https://glygen.org/publication/PubMed/10212258" } ] }, { "title": "Heteroduplex formation by human Rad51 protein: effects of DNA end-structure, hRP-A and hRad52.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Baumann P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10438626", "url": "https://glygen.org/publication/PubMed/10438626" } ] }, { "title": "Protein complexes in nucleotide excision repair.", "journal": "Mutation research", "date": "1999", "authors": "Araujo SJ, Wood RD", 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U.S.A.", "date": "2005", "authors": "Tsodikov Oleg V, Enzlin Jacquelin H, Sch\u00e4rer Orlando D, Ellenberger Tom", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" } ], "reference": [ { "type": "PubMed", "id": "16076955", "url": "https://glygen.org/publication/PubMed/16076955" } ] }, { "title": "Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome.", "journal": "Molecular cell", "date": "2005", "authors": "Sarker AH, Tsutakawa SE, Kostek S, Ng C, Shin DS, Peris M, Campeau E, Tainer JA, Nogales E, Cooper PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782135", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782135" } ], "reference": [ { "type": "PubMed", "id": "16246722", "url": "https://glygen.org/publication/PubMed/16246722" } ] }, { "title": "The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair.", "journal": "Structure", "date": "2005", "authors": "Tripsianes Konstantinos, Folkers Gert, Ab Eiso, Das Devashish, Odijk Hanny, Jaspers Nicolaas G J, Hoeijmakers Jan H J, Kaptein Robert, Boelens Rolf", "evidence": [ { "database": "UniProtKB", "id": "P07992", "url": "https://www.uniprot.org/uniprot/P07992" } ], "reference": [ { "type": "PubMed", "id": "16338413", "url": "https://glygen.org/publication/PubMed/16338413" } ] }, { "title": "Lack of association between DNA repair gene ERCC1 polymorphism and risk of lung cancer in a Chinese population.", "journal": "Cancer genetics and cytogenetics", "date": "2006", "authors": "Yin J, Vogel U, Guo L, Ma Y, Wang H", "evidence": [ { "database": "Entrez", "id": "2067", "url": "https://www.ncbi.nlm.nih.gov/gene/2067" } ], "reference": [ { "type": "PubMed", "id": "16364765", "url": "https://glygen.org/publication/PubMed/16364765" } ] }, { "title": "Recognition of helical 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