{ "uniprot_canonical_ac": "O75143-1", "uniprot_ac": "O75143", "uniprot_id": "ATG13_HUMAN", "mass": { "chemical_mass": 56572.0, "monoisotopic_mass": 56572.0 }, "refseq": { "ac": "NP_001136145", "name": "autophagy-related protein 13 isoform c", "summary": "The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, "gene_names": [ { "name": "ATG13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75143", "id": "O75143" }, { "name": "ATG13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145", "id": "NP_001136145" }, { "name": "KIAA0652; PARATARG8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145", "id": "NP_001136145" }, { "name": "KIAA0652", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75143", "id": "O75143" } ], "protein_names": [ { "name": "Autophagy-related protein 13", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75143" }, { "name": "autophagy-related protein 13 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145", "id": "NP_001136145" }, { "name": "autophagy-related protein 13; ATG13 autophagy related 13 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145", "id": "NP_001136145" } ], "function": [ { "annotation": "Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "J9JIF6", "url": "https://www.uniprot.org/uniprot/J9JIF6#function" }, { "database": "UniProtKB", "id": "ARBA00025190", "url": "https://www.uniprot.org/uniprot/ARBA00025190#function" }, { "database": "UniProtKB", "id": "J3KRU6", "url": "https://www.uniprot.org/uniprot/J3KRU6#function" }, { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143#function" }, { "database": "PubMed", "id": "21795849", "url": "https://glygen.org/publication/PubMed/21795849" }, { "database": "PubMed", "id": "21855797", "url": "https://glygen.org/publication/PubMed/21855797" }, { "database": "PubMed", "id": "19287211", "url": "https://glygen.org/publication/PubMed/19287211" }, { "database": "PubMed", "id": "19211835", "url": "https://glygen.org/publication/PubMed/19211835" }, { "database": "PubMed", "id": "18936157", "url": "https://glygen.org/publication/PubMed/18936157" }, { "database": "PubMed", "id": "19225151", "url": "https://glygen.org/publication/PubMed/19225151" }, { "database": "UniProtKB", "id": "E9PPR2", "url": "https://www.uniprot.org/uniprot/E9PPR2#function" }, { "database": "UniProtKB", "id": "J3QRL1", "url": "https://www.uniprot.org/uniprot/J3QRL1#function" } ] }, { "annotation": "Circ-PKD2 promotes Atg13-mediated autophagy by inhibiting miR-646 to increase the sensitivity of cisplatin in oral squamous cell carcinomas. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "35220397", "url": "https://glygen.org/publication/PubMed/35220397" } ] }, { "annotation": "Elevated ATG13 in serum of patients with ME/CFS stimulates oxidative stress response in microglial cells via activation of receptor for advanced glycation end products (RAGE).", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "35487443", "url": "https://glygen.org/publication/PubMed/35487443" } ] }, { "annotation": "MTORC1 suppresses autophagy through direct regulation of the approximately 3-MDa ULK1-Atg13-FIP200 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "19211835", "url": "https://glygen.org/publication/PubMed/19211835" } ] }, { "annotation": "The ERK1/2-ATG13-FIP200 signaling cascade is required for autophagy induction to protect renal cells from hypoglycemia-induced cell death.", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "33682133", "url": "https://glygen.org/publication/PubMed/33682133" } ] }, { "annotation": "The ULK-Atg13-FIP200 complexes are direct targets of mTOR and important regulators of autophagy in response to mTOR signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "19225151", "url": "https://glygen.org/publication/PubMed/19225151" } ] }, { "annotation": "The effect of lactoferrin on ULK1 and ATG13 genes expression in breast cancer cell line MCF7 and bioinformatics studies of protein interaction between lactoferrin and the autophagy initiation complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "36169801", "url": "https://glygen.org/publication/PubMed/36169801" } ] }, { "annotation": "The functions of ULK1 and ULK2 are controlled by autophosphorylation and conformational changes involving exposure of the C-terminal domain and interaction with the putative human homologue of Atg13. GeneRIF: The gene product is the functional homologue of yeast Atg13, and required for autophagy in mammalian cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "18936157", "url": "https://glygen.org/publication/PubMed/18936157" } ] }, { "annotation": "The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" } ] }, { "annotation": "The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" }, { "database": "PubMed", "id": "37567770", "url": "https://glygen.org/publication/PubMed/37567770" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1470538459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470538459" }, { "id": "rs1470538459", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470538459" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 317, "end_pos": 317, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "11", "chr_pos": "46665431", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P317", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238122657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238122657" }, { "id": "rs1238122657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238122657" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 381, "end_pos": 381, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "11", "chr_pos": "46667876", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774790564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774790564" }, { "id": "rs774790564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774790564" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 478, "end_pos": 478, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "11", "chr_pos": "46669489", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S478", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 127, "end_pos": 127, "sequence_org": "S", "sequence_mut": "H", "comment": "Abolishes interaction with ATG101; when associated with D-133.", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "26299944", "url": "https://glygen.org/publication/PubMed/26299944" } ] }, { "start_pos": 131, "end_pos": 131, "sequence_org": "I", "sequence_mut": "D", "comment": "Decreases interaction with ATG101; when associated with D-134.", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "26299944", "url": "https://glygen.org/publication/PubMed/26299944" } ] }, { "start_pos": 133, "end_pos": 133, "sequence_org": "R", "sequence_mut": "D", "comment": "Abolishes interaction with ATG101; when associated with H-127.", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "26299944", "url": "https://glygen.org/publication/PubMed/26299944" } ] }, { "start_pos": 134, "end_pos": 134, "sequence_org": "V", "sequence_mut": "D", "comment": "Decreases interaction with ATG101; when associated with D-131.", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "26299944", "url": "https://glygen.org/publication/PubMed/26299944" } ] }, { "start_pos": 444, "end_pos": 444, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases interaction with MAP1LC3A.", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "24290141", "url": "https://glygen.org/publication/PubMed/24290141" } ] }, { "start_pos": 447, "end_pos": 447, "sequence_org": "I", "sequence_mut": "A", "comment": "Decreases interaction with MAP1LC3A.", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "24290141", "url": "https://glygen.org/publication/PubMed/24290141" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175224" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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 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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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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": "O75143", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75143" } ], "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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"categories": [ "Protein Classification" ] }, { "id": "O75143", "url": "https://pharos.nih.gov/targets/O75143", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75143", "url": "http://purl.obolibrary.org/obo/PR_O75143", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1B0GXJ3", "url": "https://www.uniprot.org/uniprot/A0A1B0GXJ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GXJ3-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GXJ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPR2", "url": "https://www.uniprot.org/uniprot/E9PPR2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": 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"J3QR16-1", "url": "https://www.uniprot.org/uniprot/J3QR16-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QR83", "url": "https://www.uniprot.org/uniprot/J3QR83", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QR83-1", "url": "https://www.uniprot.org/uniprot/J3QR83-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRL1", "url": "https://www.uniprot.org/uniprot/J3QRL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRL1-1", "url": "https://www.uniprot.org/uniprot/J3QRL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J9JIF6", "url": "https://www.uniprot.org/uniprot/J9JIF6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J9JIF6-1", "url": "https://www.uniprot.org/uniprot/J9JIF6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75143-1", "url": "https://www.uniprot.org/uniprot/O75143-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75143-2", "url": "https://www.uniprot.org/uniprot/O75143-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75143-3", "url": "https://www.uniprot.org/uniprot/O75143-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75143-4", "url": "https://www.uniprot.org/uniprot/O75143-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75143-5", "url": "https://www.uniprot.org/uniprot/O75143-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGVIYPSVEDSQEVCTTSFSTSPPSQLSSSRLSYQPAALGVGSADLAYPVVFAAGLNATHPHQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPMDLGTFYREFQNPPQLSSLSIDIGAQSMAEDLDSLPEKLAVHEKNVREFDAFVETLQ", "length": 517, "header": "sp|O75143-1|ATG13_HUMAN Isoform 1 of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GXJ3-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQAR", "length": 32, "header": "tr|A0A1B0GXJ3-1|A0A1B0GXJ3_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46645365, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580238.5", "url": "https://www.ensembl.org/id/ENST00000580238.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463808.1", "url": "https://www.ensembl.org/id/ENSP00000463808.1" } ] } }, { "isoform_ac": "E9PPR2-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYN", "length": 119, "header": "tr|E9PPR2-1|E9PPR2_HUMAN Computationally mapped isoform of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46650216, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533325.5", "url": "https://www.ensembl.org/id/ENST00000533325.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436931.1", "url": "https://www.ensembl.org/id/ENSP00000436931.1" } ] } }, { "isoform_ac": "H0YCL5-1", "url": "", "sequence": { "sequence": "PSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVSPPLTTSSQ", "length": 78, "header": "tr|H0YCL5-1|ATG13_HUMAN Computationally mapped isoform of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46668606, "end_pos": 46665509, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529395.1", "url": "https://www.ensembl.org/id/ENST00000529395.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431877.1", "url": "https://www.ensembl.org/id/ENSP00000431877.1" } ] } }, { "isoform_ac": "H0YDR0-1", "url": "", "sequence": { "sequence": "XPSVEDSQEVCTTSFSTSPPSQDSLPEKLAVHEKNVREFDAFVETLQ", "length": 47, "header": "tr|H0YDR0-1|H0YDR0_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46672331, "end_pos": 46659422, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531933.1", "url": "https://www.ensembl.org/id/ENST00000531933.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434125.1", "url": "https://www.ensembl.org/id/ENSP00000434125.1" } ] } }, { "isoform_ac": "H0YEM7-1", "url": "", "sequence": { "sequence": "VFTVTKAHFQTPTPVVTDTLRVPMAGLAFSHQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPM", "length": 193, "header": "tr|H0YEM7-1|H0YEM7_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46669439, "end_pos": 46664000, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525009.5", "url": "https://www.ensembl.org/id/ENST00000525009.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436174.1", "url": "https://www.ensembl.org/id/ENSP00000436174.1" } ] } }, { "isoform_ac": "H0YF43-1", "url": "", "sequence": { "sequence": "XKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVSPPLTTSSQ", "length": 42, "header": "tr|H0YF43-1|H0YF43_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=4 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46668608, "end_pos": 46667872, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532067.1", "url": "https://www.ensembl.org/id/ENST00000532067.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000437191.1", "url": "https://www.ensembl.org/id/ENSP00000437191.1" } ] } }, { "isoform_ac": "J3KRU6-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIK", "length": 56, "header": "tr|J3KRU6-1|ATG13_HUMAN Computationally mapped isoform of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46645887, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577256.5", "url": "https://www.ensembl.org/id/ENST00000577256.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462167.1", "url": "https://www.ensembl.org/id/ENSP00000462167.1" } ] } }, { "isoform_ac": "J3KST9-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARL", "length": 33, "header": "tr|J3KST9-1|J3KST9_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46645368, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578626.5", "url": "https://www.ensembl.org/id/ENST00000578626.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462644.1", "url": "https://www.ensembl.org/id/ENSP00000462644.1" } ] } }, { "isoform_ac": "J3QLH7-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDL", "length": 13, "header": "tr|J3QLH7-1|J3QLH7_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46644330, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581438.5", "url": "https://www.ensembl.org/id/ENST00000581438.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463550.1", "url": "https://www.ensembl.org/id/ENSP00000463550.1" } ] } }, { "isoform_ac": "J3QR16-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQV", "length": 27, "header": "tr|J3QR16-1|J3QR16_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46645350, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583249.5", "url": "https://www.ensembl.org/id/ENST00000583249.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463998.1", "url": "https://www.ensembl.org/id/ENSP00000463998.1" } ] } }, { "isoform_ac": "J3QR83-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKIC", "length": 38, "header": "tr|J3QR83-1|J3QR83_HUMAN Computationally mapped isoform of Autophagy related 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46645383, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582547.5", "url": "https://www.ensembl.org/id/ENST00000582547.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464091.1", "url": "https://www.ensembl.org/id/ENSP00000464091.1" } ] } }, { "isoform_ac": "J3QRL1-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDW", "length": 50, "header": "tr|J3QRL1-1|ATG13_HUMAN Computationally mapped isoform of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46645419, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581416.5", "url": "https://www.ensembl.org/id/ENST00000581416.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464274.1", "url": "https://www.ensembl.org/id/ENSP00000464274.1" } ] } }, { "isoform_ac": "J9JIF6-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMST", "length": 198, "header": "tr|J9JIF6-1|ATG13_HUMAN Computationally mapped isoform of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46657189, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395549.3", "url": "https://www.ensembl.org/id/ENST00000395549.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000378919.3", "url": "https://www.ensembl.org/id/ENSP00000378919.3" } ] } }, { "isoform_ac": "O75143-1", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGVIYPSVEDSQEVCTTSFSTSPPSQLSSSRLSYQPAALGVGSADLAYPVVFAAGLNATHPHQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPMDLGTFYREFQNPPQLSSLSIDIGAQSMAEDLDSLPEKLAVHEKNVREFDAFVETLQ", "length": 517, "header": "sp|O75143-1|ATG13_HUMAN Isoform 1 of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46672329, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359513.8", "url": "https://www.ensembl.org/id/ENST00000359513.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000352500.4", "url": "https://www.ensembl.org/id/ENSP00000352500.4" } ] } }, { "isoform_ac": "O75143-2", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGVIYPSVEDSQEVCTTSFSTSPPSQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPMDLGTFYREFQNPPQLSSLSIDIGAQSMAEDLDSLPEKLAVHEKNVREFDAFVETLQ", "length": 480, "header": "sp|O75143-2|ATG13_HUMAN Isoform 2 of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46672329, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529655.5", "url": "https://www.ensembl.org/id/ENST00000529655.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433756.1", "url": "https://www.ensembl.org/id/ENSP00000433756.1" } ] } }, { "isoform_ac": "O75143-3", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGVIYPSVEDSQEVCTTSFSTSPPSQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLPCSWPLPCLLSPSTV", "length": 405, "header": "sp|O75143-3|ATG13_HUMAN Isoform 3 of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": {} }, { "isoform_ac": "O75143-4", "url": "", "sequence": { "sequence": "MCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGVIYPSVEDSQEVCTTSFSTSPPSQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPMDLGTFYREFQNPPQLSSLSIDIGAQSMAEDLDSLPEKLAVHEKNVREFDAFVETLQ", "length": 401, "header": "sp|O75143-4|ATG13_HUMAN Isoform 4 of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46672329, "end_pos": 46645957, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530500.5", "url": "https://www.ensembl.org/id/ENST00000530500.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434390.1", "url": "https://www.ensembl.org/id/ENSP00000434390.1" } ] } }, { "isoform_ac": "O75143-5", "url": "", "sequence": { "sequence": "METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPEVTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNRLSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPVGTITLSCAYRINLAFMSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGVIYPSVEDSQEVCTTSFSTSPPSQCVFTVTKAHFQTPTPVVTDTLRVPMAGLAFSHQLSSSRLSYQPAALGVGSADLAYPVVFAAGLNATHPHQLMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRASPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETESPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPMDLGTFYREFQNPPQLSSLSIDIGAQSMAEDLDSLPEKLAVHEKNVREFDAFVETLQ", "length": 550, "header": "sp|O75143-5|ATG13_HUMAN Isoform 5 of Autophagy-related protein 13 OS=Homo sapiens OX=9606 GN=ATG13 PE=1 SV=1 CANONICAL=O75143-1" }, "locus": { "chromosome": "11", "start_pos": 46672329, "end_pos": 46644292, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683050.1", "url": "https://www.ensembl.org/id/ENST00000683050.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507809.1", "url": "https://www.ensembl.org/id/ENSP00000507809.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 114, "start_aa": "Ser", "end_pos": 114, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser114", "evidence": [ { "id": "O75143", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75143" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "O75143", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75143" } ] } ], "phosphorylation": [ { "start_pos": 259, "end_pos": 259, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75143" }, { "database": "PubMed", "id": "31733992", "url": "https://glygen.org/publication/PubMed/31733992" } ], "site_lbl": "Ser259" }, { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Val", "comment": "", "evidence": [ { "database": "IntAct", "id": "O75143", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75143*" }, { "database": "iPTMnet", "id": "O75143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75143" }, { "database": "PubMed", "id": "24603492", "url": "https://glygen.org/publication/PubMed/24603492" } ], "site_lbl": "Val318" }, { "start_pos": 355, "end_pos": 355, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ULK1", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "iPTMnet", "id": "O75143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75143" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21855797", "url": "https://glygen.org/publication/PubMed/21855797" } ], "site_lbl": "Ser355" }, { "start_pos": 356, "end_pos": 356, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75143" } ], "site_lbl": "Ser356" }, { "start_pos": 361, "end_pos": 361, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75143" } ], "site_lbl": "Ser361" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The human homolog of Saccharomyces cerevisiae Apg7p is a Protein-activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tanida I, Tanida-Miyake E, Ueno T, Kominami E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11096062", "url": "https://glygen.org/publication/PubMed/11096062" } ] }, { "title": "Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Tanida I, Tanida-Miyake E, Komatsu M, Ueno T, Kominami E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11825910", "url": "https://glygen.org/publication/PubMed/11825910" } ] }, { "title": "HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three human Atg8 homologues and delipidates microtubule-associated protein light chain 3- and GABAA receptor-associated protein-phospholipid conjugates.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tanida I, Sou YS, Ezaki J, Minematsu-Ikeguchi N, Ueno T, Kominami E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "15187094", "url": "https://glygen.org/publication/PubMed/15187094" } ] }, { "title": "Stimulation of ATG12-ATG5 conjugation by ribonucleic acid.", "journal": "Autophagy", "date": "2007", "authors": "Shao Y, Gao Z, Feldman T, Jiang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "16963840", "url": "https://glygen.org/publication/PubMed/16963840" } ] }, { "title": "Human WIPI-1 puncta-formation: a novel assay to assess mammalian autophagy.", "journal": "FEBS letters", "date": "2007", "authors": "Proikas-Cezanne T, Ruckerbauer S, Stierhof YD, Berg C, Nordheim A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "17618624", "url": "https://glygen.org/publication/PubMed/17618624" } ] }, { "title": "The Atg16L complex specifies the site of LC3 lipidation for membrane biogenesis in autophagy.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Fujita N, Itoh T, Omori H, Fukuda M, Noda T, Yoshimori T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "18321988", "url": "https://glygen.org/publication/PubMed/18321988" } ] }, { "title": "AMPK phosphorylation of raptor mediates a metabolic checkpoint.", "journal": "Molecular cell", "date": "2008", "authors": "Gwinn DM, Shackelford DB, Egan DF, Mihaylova MM, Mery A, Vasquez DS, Turk BE, Shaw RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "18439900", "url": "https://glygen.org/publication/PubMed/18439900" } ] }, { "title": "Kinase-inactivated ULK proteins inhibit autophagy via their conserved C-terminal domains using an Atg13-independent mechanism.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Chan EY, Longatti A, McKnight NC, Tooze SA", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" } ], "reference": [ { "type": "PubMed", "id": "18936157", "url": "https://glygen.org/publication/PubMed/18936157" } ] }, { "title": "Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200 complex required for autophagy.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Hosokawa N, Hara T, Kaizuka T, Kishi C, Takamura A, Miura Y, Iemura S, Natsume T, Takehana K, Yamada N, Guan JL, Oshiro N, Mizushima N", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" }, { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" } ], "reference": [ { "type": "PubMed", "id": "19211835", "url": "https://glygen.org/publication/PubMed/19211835" } ] }, { "title": "ULK-Atg13-FIP200 complexes mediate mTOR signaling to the autophagy machinery.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Jung CH, Jun CB, Ro SH, Kim YM, Otto NM, Cao J, Kundu M, Kim DH", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" }, { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" } ], "reference": [ { "type": "PubMed", "id": "19225151", "url": "https://glygen.org/publication/PubMed/19225151" } ] }, { "title": "A novel, human Atg13 binding protein, Atg101, interacts with ULK1 and is essential for macroautophagy.", "journal": "Autophagy", "date": "2009", "authors": "Mercer CA, Kaliappan A, Dennis PB", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" } ], "reference": [ { "type": "PubMed", "id": "19287211", "url": "https://glygen.org/publication/PubMed/19287211" } ] }, { "title": "The structure of Atg4B-LC3 complex reveals the mechanism of LC3 processing and delipidation during autophagy.", "journal": "The EMBO journal", "date": "2009", "authors": "Satoo K, Noda NN, Kumeta H, Fujioka Y, Mizushima N, Ohsumi Y, Inagaki F", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "19322194", "url": "https://glygen.org/publication/PubMed/19322194" } ] }, { "title": "Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy.", "journal": "The EMBO journal", "date": "2009", "authors": "Vergne I, Roberts E, Elmaoued RA, Tosch V, Delgado MA, Proikas-Cezanne T, Laporte J, Deretic V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "19590496", "url": "https://glygen.org/publication/PubMed/19590496" } ] }, { "title": "Atg101, a novel mammalian autophagy protein interacting with Atg13.", "journal": "Autophagy", "date": "2009", "authors": "Hosokawa N, Sasaki T, Iemura S, Natsume T, Hara T, Mizushima N", "evidence": [ { "database": "UniProtKB", "id": "O75143", "url": "https://www.uniprot.org/uniprot/O75143" } ], "reference": [ { "type": "PubMed", "id": "19597335", "url": "https://glygen.org/publication/PubMed/19597335" } ] }, { "title": "3D tomography reveals connections between the phagophore and endoplasmic reticulum.", "journal": "Autophagy", "date": "2009", "authors": "Yla-Anttila P, Vihinen H, Jokitalo E, Eskelinen EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "19855179", "url": "https://glygen.org/publication/PubMed/19855179" } ] }, { "title": "A subdomain of the endoplasmic reticulum forms a cradle for autophagosome formation.", "journal": "Nature cell biology", "date": "2009", "authors": "Hayashi-Nishino M, Fujita N, Noda T, Yamaguchi A, Yoshimori T, Yamamoto A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "19898463", "url": "https://glygen.org/publication/PubMed/19898463" } ] }, { "title": "Modulation of local PtdIns3P levels by the PI phosphatase MTMR3 regulates constitutive autophagy.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Taguchi-Atarashi N, Hamasaki M, Matsunaga K, Omori H, Ktistakis NT, Yoshimori T, Noda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "20059746", "url": "https://glygen.org/publication/PubMed/20059746" } ] }, { "title": "Autophagy requires endoplasmic reticulum targeting of the PI3-kinase complex via Atg14L.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Matsunaga K, Morita E, Saitoh T, Akira S, Ktistakis NT, Izumi T, Noda T, Yoshimori T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "20713597", "url": "https://glygen.org/publication/PubMed/20713597" } ] }, { "title": "The dynamic interaction of AMBRA1 with the dynein motor complex regulates mammalian autophagy.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Di Bartolomeo S, 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cell line MCF7 and bioinformatics studies of protein interaction between lactoferrin and the autophagy initiation complex.", "journal": "Cell biochemistry and biophysics", "date": "2022-12", "authors": "Karabi Zahra, Moradian Fatemeh, Kheirabadi Mitra", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" } ], "reference": [ { "type": "PubMed", "id": "36169801", "url": "https://glygen.org/publication/PubMed/36169801" } ] }, { "title": "The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis.", "journal": "FEBS letters", "date": "2024-01", "authors": "Nguyen Anh, Faesen Alex C", "evidence": [ { "database": "RefSeq", "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145" } ], "reference": [ { "type": "PubMed", "id": "37567770", "url": "https://glygen.org/publication/PubMed/37567770" } ] }, { "title": "A human phosphatidylinositol 3-kinase complex related to 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