{ "uniprot_canonical_ac": "A2RUS2-1", "uniprot_ac": "A2RUS2", "uniprot_id": "DEND3_HUMAN", "mass": { "chemical_mass": 135890.0, "monoisotopic_mass": 135890.0 }, "refseq": { "ac": "NP_055772", "name": "DENN domain-containing protein 3 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" }, "gene_names": [ { "name": "DENND3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2" }, { "name": "DENND3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772", "id": "NP_055772" }, { "name": "KIAA0870", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2" }, { "name": "hCG_20740", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2" } ], "protein_names": [ { "name": "DENN domain-containing protein 3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2RUS2#names_and_taxonomy", "id": "A2RUS2" }, { "name": "DENN domain-containing protein 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772", "id": "NP_055772" }, { "name": "DENN domain-containing protein 3; DENN/MADD domain containing 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772", "id": "NP_055772" } ], "function": [ { "annotation": "A novel signaling pathway identified whereby starvation-induced activation of ULK leads to phosphorylation of endogenous DENND3, with subsequent activation of Rab12 and initiation of membrane trafficking events required for autophagy", "evidence": [ { "database": "RefSeq", "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" }, { "database": "PubMed", "id": "25925668", "url": "https://glygen.org/publication/PubMed/25925668" } ] }, { "annotation": "DENND3 is the exchange factor for the small GTPase Rab12 regulated through an intramolecular interaction", "evidence": [ { "database": "RefSeq", "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" }, { "database": "PubMed", "id": "28249939", "url": "https://glygen.org/publication/PubMed/28249939" } ] }, { "annotation": "Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form (PubMed:20937701). Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4 (PubMed:20937701). Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2#function" }, { "database": "PubMed", "id": "A2RT67", "url": "https://glygen.org/publication/PubMed/A2RT67" }, { "database": "PubMed", "id": "20937701", "url": "https://glygen.org/publication/PubMed/20937701" } ] }, { "annotation": "Show that DENND3 binds actin through a surface of positively charged residues on the PHenn domain of Ran12", "evidence": [ { "database": "RefSeq", "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" }, { "database": "PubMed", "id": "29352104", "url": "https://glygen.org/publication/PubMed/29352104" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A2RUS2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2" } ], "glycoeffect": [], "start_pos": 1022, "end_pos": 1022, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "8", "chr_pos": "142200442", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1374514837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374514837" }, { "id": "rs1374514837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374514837#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1073, "end_pos": 1073, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "8", "chr_pos": "141192408G>", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448935630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448935630" }, { "id": "rs1448935630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1448935630#frequency_tab" }, { "id": "rs1448935630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448935630" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1126, "end_pos": 1126, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT).", "chr_id": "8", "chr_pos": "141192644T>", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RUS2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "8", "chr_pos": "142161733", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2RUS2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2" } ], "glycoeffect": [], "start_pos": 217, "end_pos": 217, "subjects_tested": "160", "subjects_positive": "1", "frequency": "0.6", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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In dbSNP: rs1164686761.", "chr_id": "8", "chr_pos": "142188188", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "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": "malignant tumor of body 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": "gastric neoplasm", "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 lesser curve of stomach", "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 neoplasm of body 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, intestinal", "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": "malignant tumor of greater curve of 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": "Ca lesser curvature - 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 neoplasm of stomach", "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 neoplasm of the stomach", "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": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1230266902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230266902" }, { "id": "rs1230266902", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230266902#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 835, "end_pos": 835, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVL->NVS).", "chr_id": "8", "chr_pos": "141178104T>", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767186988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767186988" }, { "id": "rs767186988", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767186988" }, { "id": "rs767186988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767186988" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 854, "end_pos": 854, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "8", "chr_pos": "141178161C>", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1157822352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157822352" }, { "id": "rs1157822352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157822352" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 857, "end_pos": 857, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "8", "chr_pos": "141178169T>", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2RUS2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 884, "end_pos": 884, "subjects_tested": "820", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "8", "chr_pos": "142190900", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1454390770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454390770" }, { "id": "rs1454390770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454390770" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 951, "end_pos": 951, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT).", "chr_id": "8", "chr_pos": "141188993T>", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Kidney", "uberon": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Oral cavity", "uberon": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Stomach", "uberon": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Uterus", "uberon": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Esophagus", "uberon": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Rectum", "uberon": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Colon", "uberon": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Urinary bladder", "uberon": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Thyroid gland", "uberon": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Lung", "uberon": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Liver", "uberon": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Prostate gland", "uberon": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] }, { "tissue": { "name": "Breast", "uberon": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "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: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": "HPC4", "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, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "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": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12; HPC12", "description": "" }, { "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": "HPC12", "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": "familial prostate cancer caused by mutation in EHBP1", "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": "prostate cancer, hereditary, 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, type 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": "HPC3", "description": "" }, { "id": "MONDO:0012758", 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"url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "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": "prostate cancer, hereditary, 8", "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": "HPC8", "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": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "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": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "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": "prostate cancer, familial", "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, hereditary", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "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 aggressiveness", "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; HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "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": "prostate cancer, hereditary, 1; HPC1", "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": "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": "Prca1", "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: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": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11; 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": "HPC14", "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:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14; HPC14", "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; HPC15", "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": "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, hereditary, X-linked 1; HPCX1", "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 susceptibility, X-linked", "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": "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; HPCX2", "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": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "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": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "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": "malignant tumor of body 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": "gastric neoplasm", "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 lesser curve of stomach", "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 neoplasm of body 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, intestinal", "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": "malignant tumor of greater curve of 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": "Ca lesser curvature - 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 neoplasm of stomach", "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 neoplasm of the stomach", "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": "cancer of stomach", "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": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer", "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 bladder neoplasm", "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 neoplasm of bladder", "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 urinary bladder neoplasm", "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": "urinary bladder malignant neoplasm", "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": "cancer of urinary bladder", "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": "malignant neoplasm of urinary 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": "tumor of the 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 urinary bladder tumor", "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": "malignant neoplasm, bladder", "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": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "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: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; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "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": "familial breast carcinoma", "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": "hereditary breast cancer", "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": "breast cancer, familial Male", "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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 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": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "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": "ca liver - primary", "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "common_name": "Human" } ], "gene": [ { "name": "DENND3", "url": "https://www.uniprot.org/uniprot/A2RUS2", "locus": { "chromosome": "8", "start_pos": 141117278, "end_pos": 141195808, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105339", "url": "https://www.ensembl.org/id/ENSG00000105339" } ] } } ], "crossref": [ { "id": "ENSG00000105339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "database": "Bgee" }, { "id": "A2RUS2", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "database": "BioMuta" }, { "id": "DENND3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND3", "database": "GeneCards" }, { "id": "22898", "url": "https://www.ncbi.nlm.nih.gov/gene/22898", "database": "GeneID" }, { "id": "29134", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29134", "database": "HGNC" }, { "id": "A2RUS2", "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RUS2*", "database": "IntAct" }, { "id": "IPR001194", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001194", "database": "InterPro" }, { "id": "IPR001680", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "database": "InterPro" }, { "id": "IPR005112", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005112", "database": "InterPro" }, { "id": "IPR005113", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005113", "database": "InterPro" }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro" }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro" }, { "id": "IPR037516", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037516", "database": "InterPro" }, { "id": "IPR043153", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043153", "database": "InterPro" }, { "id": "hsa:22898", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "database": "KEGG Pathway" }, { "id": "617503", "url": "http://www.omim.org/entry/617503", "database": "MIM" }, { "id": "NX_A2RUS2", "url": "https://www.nextprot.org/entry/NX_A2RUS2", "database": "neXtProt" }, { "id": "A2RUS2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2", "database": "O-GlcNAc Database" }, { "id": "KEDHVHF", "url": "https://omabrowser.org/oma/group/KEDHVHF/", "database": "OMA" }, { "id": "521943at2759", "url": "http://www.orthodb.org/?query=521943at2759", "database": "OrthoDB" }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam" }, { "id": "PF02141", "url": "http://pfam.xfam.org/family/PF02141", "database": "Pfam" }, { "id": "PF03456", "url": "http://pfam.xfam.org/family/PF03456", "database": "Pfam" }, { "id": "A2RUS2", "url": "https://pharos.nih.gov/targets/A2RUS2", "database": "PHAROS" }, { "id": "PR_A2RUS2", "url": "http://purl.obolibrary.org/obo/PR_A2RUS2", "database": "PRO" }, { "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "database": "Reactome" }, { "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772", "database": "RefSeq" 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"MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE", "length": 1198, "header": "sp|A2RUS2-1|DEND3_HUMAN Isoform 1 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1" }, "isoforms": [ { "isoform_ac": "A2RUS2-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-1", "sequence": { "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE", "length": 1198, "header": "sp|A2RUS2-1|DEND3_HUMAN Isoform 1 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141194230, "end_pos": 141136647, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262585", "url": "https://www.ensembl.org/id/ENST00000262585" }, { "database": "Ensembl Peptide", "id": "ENSP00000262585", "url": "https://www.ensembl.org/id/ENSP00000262585" } ] } }, { "isoform_ac": "A2RUS2-2", "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-2", "sequence": { "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE", "length": 1146, "header": "sp|A2RUS2-2|DEND3_HUMAN Isoform 2 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141194230, "end_pos": 141136647, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424248", "url": "https://www.ensembl.org/id/ENST00000424248" }, { "database": "Ensembl Peptide", "id": "ENSP00000410594", "url": "https://www.ensembl.org/id/ENSP00000410594" } ] } }, { "isoform_ac": "A2RUS2-3", "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-3", "sequence": { "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVGWRARHPQHPRQVSLALAASPCSREPAARPRALLPSPLRVPLLTGTCRVGANGPTGHHVLVSWCGPSTPQRIPPNWMASNDRT", "length": 266, "header": "sp|A2RUS2-3|DEND3_HUMAN Isoform 3 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1" }, "locus": {} }, { "isoform_ac": "A2RUS2-4", "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-4", "sequence": { "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSW", "length": 128, "header": "sp|A2RUS2-4|DEND3_HUMAN Isoform 4 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1" }, "locus": {} }, { "isoform_ac": "B3KRG7-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#B3KRG7-1", "sequence": { "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE", "length": 248, "header": "tr|B3KRG7-1|B3KRG7_HUMAN Computationally mapped isoform of cDNA FLJ34237 fis, clone FCBBF3027328 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141194230, "end_pos": 141188992, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523308", "url": "https://www.ensembl.org/id/ENST00000523308" }, { "database": "Ensembl Peptide", "id": "ENSP00000430912", "url": "https://www.ensembl.org/id/ENSP00000430912" } ] } }, { "isoform_ac": "E5RH95-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RH95-1", "sequence": { "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQRSCPFSCLLLSVKRTVKWPVPTAALSVKPGCAP", "length": 67, "header": "tr|E5RH95-1|E5RH95_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141136656, "end_pos": 141128708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518198", "url": "https://www.ensembl.org/id/ENST00000518198" }, { "database": "Ensembl Peptide", "id": "ENSP00000428641", "url": "https://www.ensembl.org/id/ENSP00000428641" } ] } }, { "isoform_ac": "E5RHH2-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RHH2-1", "sequence": { "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSK", "length": 280, "header": "tr|E5RHH2-1|E5RHH2_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141151837, "end_pos": 141128708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520986", "url": "https://www.ensembl.org/id/ENST00000520986" }, { "database": "Ensembl Peptide", "id": "ENSP00000429780", "url": "https://www.ensembl.org/id/ENSP00000429780" } ] } }, { "isoform_ac": "E5RI43-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RI43-1", "sequence": { "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVQPCLSSHSVNTEFELKCDFKVFNMKSLQIVLPARADPESPILDLD", "length": 291, "header": "tr|E5RI43-1|E5RI43_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141150908, "end_pos": 141128708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523058", "url": "https://www.ensembl.org/id/ENST00000523058" }, { "database": "Ensembl Peptide", "id": "ENSP00000430786", "url": "https://www.ensembl.org/id/ENSP00000430786" } ] } }, { "isoform_ac": "E5RIR7-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RIR7-1", "sequence": { "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSW", "length": 208, "header": "tr|E5RIR7-1|E5RIR7_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141141325, "end_pos": 141128708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518347", "url": "https://www.ensembl.org/id/ENST00000518347" }, { "database": "Ensembl Peptide", "id": "ENSP00000430695", "url": "https://www.ensembl.org/id/ENSP00000430695" } ] } }, { "isoform_ac": "E5RJ42-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RJ42-1", "sequence": { "sequence": "MAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVC", "length": 124, "header": "tr|E5RJ42-1|E5RJ42_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=8 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141141274, "end_pos": 141136608, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519291", "url": "https://www.ensembl.org/id/ENST00000519291" }, { "database": "Ensembl Peptide", "id": "ENSP00000430625", "url": "https://www.ensembl.org/id/ENSP00000430625" } ] } }, { "isoform_ac": "E9PF32-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#E9PF32-1", "sequence": { "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE", "length": 1278, "header": "tr|E9PF32-1|E9PF32_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141194230, "end_pos": 141128708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519811", "url": "https://www.ensembl.org/id/ENST00000519811" }, { "database": "Ensembl Peptide", "id": "ENSP00000428714", "url": "https://www.ensembl.org/id/ENSP00000428714" } ] } }, { "isoform_ac": "H0YAW2-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAW2-1", "sequence": { "sequence": "DEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSWPRRKQLTTVPFCVIMLENEPRQIAELVLFLLLAKHSHLRPSALTRGTSPMESEQEPYCSNQ", "length": 102, "header": "tr|H0YAW2-1|H0YAW2_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141142483, "end_pos": 141141203, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518249", "url": "https://www.ensembl.org/id/ENST00000518249" }, { "database": "Ensembl Peptide", "id": "ENSP00000428155", "url": "https://www.ensembl.org/id/ENSP00000428155" } ] } }, { "isoform_ac": "H0YAY3-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAY3-1", "sequence": { "sequence": "XPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE", "length": 1203, "header": "tr|H0YAY3-1|H0YAY3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141194232, "end_pos": 141128779, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518668", "url": "https://www.ensembl.org/id/ENST00000518668" }, { "database": "Ensembl Peptide", "id": "ENSP00000428276", "url": "https://www.ensembl.org/id/ENSP00000428276" } ] } }, { "isoform_ac": "H0YBH5-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YBH5-1", "sequence": { "sequence": "VGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVVSTRSVRKEASEFT", "length": 122, "header": "tr|H0YBH5-1|H0YBH5_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141185320, "end_pos": 141178121, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517985", "url": "https://www.ensembl.org/id/ENST00000517985" }, { "database": "Ensembl Peptide", "id": "ENSP00000429533", "url": "https://www.ensembl.org/id/ENSP00000429533" } ] } }, { "isoform_ac": "H0YBK9-1", "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YBK9-1", "sequence": { "sequence": "XTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVGWRARHPQHPRQVSLALAASPCSREPAARPRALLPSPLRVPLLTGTCRVGANGPTGHHVLVSWCGPSTPQRIPPNWMASNDRT", "length": 170, "header": "tr|H0YBK9-1|H0YBK9_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1" }, "locus": { "chromosome": "8", "start_pos": 141192916, "end_pos": 141192331, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520725", "url": "https://www.ensembl.org/id/ENST00000520725" }, { "database": "Ensembl Peptide", "id": "ENSP00000429725", "url": "https://www.ensembl.org/id/ENSP00000429725" } ] } } ], "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": 854, "start_aa": "Ser", "end_pos": 854, "end_aa": "Ser", "residue": "Ser", "evidence": [ { "id": "A2RUS2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 857, "start_aa": "Ser", "end_pos": 857, "end_aa": "Ser", "residue": "Ser", "evidence": [ { "id": "A2RUS2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 1144, "end_pos": 1144, "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A2RUS2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RUS2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "start_pos": 472, "end_pos": 472, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ULK1", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ] }, { "start_pos": 490, "end_pos": 490, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ULK1", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ] }, { "start_pos": 858, "end_pos": 858, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ] } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "A2RUS2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RUS2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.", "journal": "J. Cell Biol.", "date": "2010", "authors": "Barr F.A., Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J.", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "reference": [ { "type": "PubMed", "id": "20937701", "url": "https://glygen.org/publication/PubMed/20937701" } ] }, { "title": "Phosphorylation of the exchange factor DENND3 by ULK in response to starvation activates Rab12 and induces autophagy.", "journal": "EMBO reports", "date": "2015", "authors": "Xu J, Fotouhi M, McPherson PS", "evidence": [ { "database": "RefSeq", "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" } ], "reference": [ { "type": "PubMed", "id": "25925668", "url": "https://glygen.org/publication/PubMed/25925668" } ] }, { "title": "Regulation of DENND3, the exchange factor for the small GTPase Rab12 through an intramolecular interaction.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Xu J, McPherson PS", "evidence": [ { "database": "RefSeq", "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" } ], "reference": [ { "type": "PubMed", "id": "28249939", "url": "https://glygen.org/publication/PubMed/28249939" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "A2RUS2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A PH-like domain of the Rab12 guanine nucleotide exchange factor DENND3 binds actin and is required for autophagy.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Xu J, Kozlov G, McPherson PS, Gehring K", "evidence": [ { "database": "RefSeq", "id": "NP_055772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772" } ], "reference": [ { "type": "PubMed", "id": "29352104", "url": "https://glygen.org/publication/PubMed/29352104" } ] } ], "pathway": [ { "id": "hsa:22898", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "resource": "KEGG Pathway" }, { "id": "R-HSA-8876198", "name": "RAB GEFs exchange GTP for GDP on RABs", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "resource": "Reactome", "description": "RAB GEFs exchange GTP for GDP on RABs" } ], "orthologs": [ { "uniprot_canonical_ac": "A2RT67-1", "protein_name": "DENN domain-containing protein 3", "gene_name": "Dennd3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAEPAARHLSLPSGLLELCALLGASQDSLRGLEQIAQKRGVKSASSLVPEVLSVFVPPFTTKEDGQVPGASCALGKGRRRSFRKKREKPRMEPWKSHPGDSKGPDSEDVTIPGGVDLLALPQLCFPGCVCVASEPKEDYIHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKSHWEPSVISARCFVPFAVCVVSRFPYYNSLKDCLSCLLTHLKLCKDFEVDNHIKDFAARLSLIPSPPPGPLHLIFNMKPLQVVFPSRADPESPIVDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLMAECFVAYLHPLQWQHTFVPILSGQMLDFVMAPTSFLMGCHLDHFEEVRKEADGLVLIDIDHGSVTCSKSSDDNIDIPDVPLLLAQTFIQRVQSLQLHPDLHLAHLSASTDLNEGRARRRAWQQTLNCKIQHITLQLLVGIFREVKNHLNYEHRVFNSEEFLKTRAAGDQQFYKQVLDTYMFHSFLKARLNGRMDAFARMDLDTQSEEDRIDRMLISPRRPTVEKMASRKASPLHITHRRMVVSMPNLQDISLPELPPRNSSLRIMDTSNCRSSSPVLKVTPKSTYMFKIPDIHFPLESQCVQAYYTDFVTLLSKAMALLGPGDSLLLARYFYLRGLLHLMQGQLLSALLDFQNLYKTDIGIFPADLVKRTVESMSASERAQAERTPELRRLITEVFDKHGEAPKADDAVKNFELPKKHMQLNDFVKRVQESGIVKDAVIIHRLFDALTFGHEKQIDPETFRDFYTCWKETEAEAQEVSLPALLMEHLDKNECVYKLSSSVKTNRGVGKIAMTQKRLFLLTEGRPGYVEIATFRNIEEVKNSTVAFLLLRIPTLKIKTVAKKEVFEANLKSECDLWHLMVKEMWAGKQLADDHKDPQYVQQALTNVLLMDAVVGTLQSPSAIHAASKLAYFDNMKKKSPMAVPKTTSETLKHKINPSAGETAPQAIEVLLYTPGRLDPAEKVEDAHPKLWCALNEGKVVVFDASSWTVHQHCFKVGSSKVNCMVMAEHNQVWVGSEDSVIYIINVHSMSCNKQLTDHRSPVTGLAVHNGKKPSEIYSCSLDGTVIAWNVSTLRVISRFQLSYGDLLSISLHNDRIWCCTVHKILVVTPQGFVRQELKHPKDASFLAFQLLPEEQQLWAASTGVSELYMWSLKDLDQPPQKTYLQDCSEVTCMIRVKRQIWVGGRGLSQGKTRGKIYVMDVEKVTVEKELVAHLDTVRTLCSAEDRYVLSGAGQEEGKIAIWKVE", "length": 1274 }, "evidence": [ { "id": "28254", "url": "http://www.informatics.jax.org/homology/28254", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "D4A2H4-1", "protein_name": "DENN domain-containing 3", "gene_name": "Dennd3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAEPSARHLSLPSGLLELCALLGASQDSLRGLEQIAQKRGVNGASSLVPEVLSVFVPPFTTKEDGQVVGASCTLSKGRRRSFRKKREKPRMESWKSHPGDSKGPDSEDVTIPGGVDLLALPQLCFPGGVCVASEPKEDYIHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKSHWEPSMSSARRFVPFAVCVVSRFPYYNSLKDCLSCLLTHLKLCKDFEVDNHIKDFAARLSLIPSPPPGPLHLIFNMKPLQVVFPSRADPESPIIDLDLHLPLLCFRPEKVLQILTCILTEQRMVFFSSDWALLTLMAECFVAYVHPLQWQHTFVPILSGQMLDFVMAPTSFLMGCHLDHFEEVRKEADGLVLIDIDLGSVTCSKSSDEDVDIPDVPLLLAQAFIQRVQSLQLHPDLHLAHLSASTDLNEGRARRRAWQQALNCKIQHITLQLLVGIFREVKNHLNYEHRVFNSEEFLKTRAAGDQQFYKQVLDTYMFHSFLKARLNGRMDAFARMDLDTQSEEDRIDRMLISPRRPTVEKMASRKASPLNIAHRRMVVSMPNLQDISLPELPPRNSSLRIMDTSSCKSSSPVLKVTPKSTYTFKIPEIHFPLVSQCVQAYFTDLVTLLSKAMALLGPGDSLLLARYFYLRGLIHLMQGQLLNALLDFQSLYKTDIRIFPADLVKGMVDSMSASERAQAERTPELRRLITEVFDKQGEAPKVDDAVKNFELPKKHMQLNDFVKRVQESGIVKDTTIIHRLFDALTVGHEKQIDPETFRDFYTCWKETEAEAQEVSLPALLVDHLDRNECVYKLSSSVKTNRGVGKIAMTQKRLFLLPEGRPSYVEIATFRNIEEVKSTTVAFLLLKIPTLKIKTVAKKEVFEANLKSECDLWHLMVKEMWAGKKLADDHKDPQYVQQALTNVLLMDAVVGTLQSSGAIYAASKLAYFDKMKNELPMAVPKTTSETLKHKINPSAGETAPQAIEVLLYTPGRLDPAEKVEDAHPKLWCALNEGKVVVFDASSWTIHQHCFKVGSSKVNCMVMAEHSQVWVGSEDSVIYIINVHSMSCNKQLTDHRSAVTGLAVPSGKKPSAVYSCSLDGTVLAWNVSTLRVISRFQLQHGDLMSISLHNDRVFCCTARSILVVTLQGFVRQELRIQPSEEPSASFLAIQLLPEEQQLWVACTGVSELYIWSLKDLGQPPQKTHLQDCTEVTCMIRVKRQIWVGGRGLSQGKTRGKIYVMDVEKVTLEKELVAHSDTVRTLCSAEDRYVLSGAGGEEGKIAIWKVE", "length": 1278 }, "evidence": [ { "id": "28254", "url": "http://www.informatics.jax.org/homology/28254", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "regulation of Rab protein signal transduction", "id": "GO:0032483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032483", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "pmid": "21873635" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "pmid": "" }, { "name": "cellular protein catabolic process", "id": "GO:0044257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044257", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "pmid": "21873635" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "A2RUS2", "url": "https://www.uniprot.org/uniprot/A2RUS2" } ], "pmid": "20937701" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1017, "end_pos": 1019, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1058, "end_pos": 1060, "annotation": "n_glycosylation_sequon" }, { "start_pos": 488, "end_pos": 490, "annotation": "n_glycosylation_sequon" }, { "start_pos": 507, "end_pos": 509, "annotation": "n_glycosylation_sequon" }, { "start_pos": 73, "end_pos": 75, "annotation": "n_glycosylation_sequon" }, { "start_pos": 930, "end_pos": 932, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }