{ "uniprot_canonical_ac": "A2RUS2-1", "ptm_annotation": [], "sequence": { "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", "length": 1198, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" }, "uniprot_id": "", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.oglcnac_db" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017112", "pmid": "20937701", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "Rab guanyl-nucleotide exchange factor activity", "id": "GO:0017112" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017112", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "Rab guanyl-nucleotide exchange factor activity", "id": "GO:0017112" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "cytoplasmic vesicle", "id": "GO:0031410" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032483", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "regulation of Rab protein signal transduction", "id": "GO:0032483" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "endosome to lysosome transport", "id": "GO:0008333" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044257", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "cellular protein catabolic process", "id": "GO:0044257" } ], "total": 3, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20937701", "type": "PubMed", "id": "20937701" } ], "title": "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.", "journal": "J. Cell Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "authors": "Barr F.A., Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "type": "PubMed", "id": "29351928" } ], "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", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "date": "2018" } ], "uniprot_ac": "A2RUS2", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "type": "recommended", "resource": "UniProtKB", "name": "DENND3" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2", "type": "synonym", "resource": "UniProtKB", "name": "KIAA0870" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2", "type": "synonym", "resource": "UniProtKB", "name": "hCG_20740" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-1", "isoform_ac": "A2RUS2-1", "locus": { "end_pos": 141136647, "strand": "-", "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000262585", "id": "ENST00000262585", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000262585", "id": "ENSP00000262585", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 1198, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-2", "isoform_ac": "A2RUS2-2", "locus": { "end_pos": 141136647, "strand": "-", "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000424248", "id": "ENST00000424248", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410594", "id": "ENSP00000410594", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 1146, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-3", "isoform_ac": "A2RUS2-3", "locus": {}, "sequence": { "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", "length": 266, "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVGWRARHPQHPRQVSLALAASPCSREPAARPRALLPSPLRVPLLTGTCRVGANGPTGHHVLVSWCGPSTPQRIPPNWMASNDRT" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-4", "isoform_ac": "A2RUS2-4", "locus": {}, "sequence": { "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", "length": 128, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSW" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#B3KRG7-1", "isoform_ac": "B3KRG7-1", "locus": { "end_pos": 141188992, "strand": "-", "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000523308", "id": "ENST00000523308", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430912", "id": "ENSP00000430912", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 248, "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RH95-1", "isoform_ac": "E5RH95-1", "locus": { "end_pos": 141128708, "strand": "-", "start_pos": 141136656, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518198", "id": "ENST00000518198", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428641", "id": "ENSP00000428641", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 67, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQRSCPFSCLLLSVKRTVKWPVPTAALSVKPGCAP" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RHH2-1", "isoform_ac": "E5RHH2-1", "locus": { "end_pos": 141128708, "strand": "-", "start_pos": 141151837, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520986", "id": "ENST00000520986", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429780", "id": "ENSP00000429780", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 280, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSK" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RI43-1", "isoform_ac": "E5RI43-1", "locus": { "end_pos": 141128708, "strand": "-", "start_pos": 141150908, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000523058", "id": "ENST00000523058", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430786", "id": "ENSP00000430786", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 291, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVQPCLSSHSVNTEFELKCDFKVFNMKSLQIVLPARADPESPILDLD" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RIR7-1", "isoform_ac": "E5RIR7-1", "locus": { "end_pos": 141128708, "strand": "-", "start_pos": 141141325, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518347", "id": "ENST00000518347", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430695", "id": "ENSP00000430695", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 208, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSW" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RJ42-1", "isoform_ac": "E5RJ42-1", "locus": { "end_pos": 141136608, "strand": "-", "start_pos": 141141274, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519291", "id": "ENST00000519291", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430625", "id": "ENSP00000430625", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 124, "sequence": "MAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVC" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E9PF32-1", "isoform_ac": "E9PF32-1", "locus": { "end_pos": 141128708, "strand": "-", "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519811", "id": "ENST00000519811", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428714", "id": "ENSP00000428714", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 1278, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAW2-1", "isoform_ac": "H0YAW2-1", "locus": { "end_pos": 141141203, "strand": "-", "start_pos": 141142483, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518249", "id": "ENST00000518249", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428155", "id": "ENSP00000428155", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 102, "sequence": "DEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSWPRRKQLTTVPFCVIMLENEPRQIAELVLFLLLAKHSHLRPSALTRGTSPMESEQEPYCSNQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAY3-1", "isoform_ac": "H0YAY3-1", "locus": { "end_pos": 141128779, "strand": "-", "start_pos": 141194232, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518668", "id": "ENST00000518668", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428276", "id": "ENSP00000428276", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 1203, "sequence": "XPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YBH5-1", "isoform_ac": "H0YBH5-1", "locus": { "end_pos": 141178121, "strand": "-", "start_pos": 141185320, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000517985", "id": "ENST00000517985", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429533", "id": "ENSP00000429533", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 122, "sequence": "VGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVVSTRSVRKEASEFT" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YBK9-1", "isoform_ac": "H0YBK9-1", "locus": { "end_pos": 141192331, "strand": "-", "start_pos": 141192916, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520725", "id": "ENST00000520725", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429725", "id": "ENSP00000429725", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 170, "sequence": "XTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVGWRARHPQHPRQVSLALAASPCSREPAARPRALLPSPLRVPLLTGTCRVGANGPTGHHVLVSWCGPSTPQRIPPNWMASNDRT" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "resource": "KEGG Pathway", "id": "hsa:22898", "name": "" }, { "reaction_list": [ "R-HSA-8875318", "R-HSA-8875320", "R-HSA-8876188", "R-HSA-8876190", "R-HSA-8876191", "R-HSA-8876193", "R-HSA-8876446", "R-HSA-8876454", "R-HSA-8876615", "R-HSA-8876616", "R-HSA-8876837", "R-HSA-8877308", "R-HSA-8877311", "R-HSA-8877451", "R-HSA-8877475", "R-HSA-8877612", "R-HSA-8877760", "R-HSA-8877813", "R-HSA-8877998", "R-HSA-8933446", "R-HSA-8933452" ], "resource": "Reactome", "description": "RAB GEFs exchange GTP for GDP on RABs", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "name": "RAB GEFs exchange GTP for GDP on RABs" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#function", "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": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#function", "id": "A2RUS2", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A2RT67-1", "protein_name": "DENN domain-containing protein 3", "sequence": { "length": 1274, "sequence": "MAEPAARHLSLPSGLLELCALLGASQDSLRGLEQIAQKRGVKSASSLVPEVLSVFVPPFTTKEDGQVPGASCALGKGRRRSFRKKREKPRMEPWKSHPGDSKGPDSEDVTIPGGVDLLALPQLCFPGCVCVASEPKEDYIHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKSHWEPSVISARCFVPFAVCVVSRFPYYNSLKDCLSCLLTHLKLCKDFEVDNHIKDFAARLSLIPSPPPGPLHLIFNMKPLQVVFPSRADPESPIVDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLMAECFVAYLHPLQWQHTFVPILSGQMLDFVMAPTSFLMGCHLDHFEEVRKEADGLVLIDIDHGSVTCSKSSDDNIDIPDVPLLLAQTFIQRVQSLQLHPDLHLAHLSASTDLNEGRARRRAWQQTLNCKIQHITLQLLVGIFREVKNHLNYEHRVFNSEEFLKTRAAGDQQFYKQVLDTYMFHSFLKARLNGRMDAFARMDLDTQSEEDRIDRMLISPRRPTVEKMASRKASPLHITHRRMVVSMPNLQDISLPELPPRNSSLRIMDTSNCRSSSPVLKVTPKSTYMFKIPDIHFPLESQCVQAYYTDFVTLLSKAMALLGPGDSLLLARYFYLRGLLHLMQGQLLSALLDFQNLYKTDIGIFPADLVKRTVESMSASERAQAERTPELRRLITEVFDKHGEAPKADDAVKNFELPKKHMQLNDFVKRVQESGIVKDAVIIHRLFDALTFGHEKQIDPETFRDFYTCWKETEAEAQEVSLPALLMEHLDKNECVYKLSSSVKTNRGVGKIAMTQKRLFLLTEGRPGYVEIATFRNIEEVKNSTVAFLLLRIPTLKIKTVAKKEVFEANLKSECDLWHLMVKEMWAGKQLADDHKDPQYVQQALTNVLLMDAVVGTLQSPSAIHAASKLAYFDNMKKKSPMAVPKTTSETLKHKINPSAGETAPQAIEVLLYTPGRLDPAEKVEDAHPKLWCALNEGKVVVFDASSWTVHQHCFKVGSSKVNCMVMAEHNQVWVGSEDSVIYIINVHSMSCNKQLTDHRSPVTGLAVHNGKKPSEIYSCSLDGTVIAWNVSTLRVISRFQLSYGDLLSISLHNDRIWCCTVHKILVVTPQGFVRQELKHPKDASFLAFQLLPEEQQLWAASTGVSELYMWSLKDLDQPPQKTYLQDCSEVTCMIRVKRQIWVGGRGLSQGKTRGKIYVMDVEKVTVEKELVAHLDTVRTLCSAEDRYVLSGAGQEEGKIAIWKVE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28254", "id": "28254", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Dennd3", "tax_id": 10090 }, { "uniprot_canonical_ac": "D4A2H4-1", "protein_name": "DENN domain-containing 3", "sequence": { "length": 1278, "sequence": "MAEPSARHLSLPSGLLELCALLGASQDSLRGLEQIAQKRGVNGASSLVPEVLSVFVPPFTTKEDGQVVGASCTLSKGRRRSFRKKREKPRMESWKSHPGDSKGPDSEDVTIPGGVDLLALPQLCFPGGVCVASEPKEDYIHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKSHWEPSMSSARRFVPFAVCVVSRFPYYNSLKDCLSCLLTHLKLCKDFEVDNHIKDFAARLSLIPSPPPGPLHLIFNMKPLQVVFPSRADPESPIIDLDLHLPLLCFRPEKVLQILTCILTEQRMVFFSSDWALLTLMAECFVAYVHPLQWQHTFVPILSGQMLDFVMAPTSFLMGCHLDHFEEVRKEADGLVLIDIDLGSVTCSKSSDEDVDIPDVPLLLAQAFIQRVQSLQLHPDLHLAHLSASTDLNEGRARRRAWQQALNCKIQHITLQLLVGIFREVKNHLNYEHRVFNSEEFLKTRAAGDQQFYKQVLDTYMFHSFLKARLNGRMDAFARMDLDTQSEEDRIDRMLISPRRPTVEKMASRKASPLNIAHRRMVVSMPNLQDISLPELPPRNSSLRIMDTSSCKSSSPVLKVTPKSTYTFKIPEIHFPLVSQCVQAYFTDLVTLLSKAMALLGPGDSLLLARYFYLRGLIHLMQGQLLNALLDFQSLYKTDIRIFPADLVKGMVDSMSASERAQAERTPELRRLITEVFDKQGEAPKVDDAVKNFELPKKHMQLNDFVKRVQESGIVKDTTIIHRLFDALTVGHEKQIDPETFRDFYTCWKETEAEAQEVSLPALLVDHLDRNECVYKLSSSVKTNRGVGKIAMTQKRLFLLPEGRPSYVEIATFRNIEEVKSTTVAFLLLKIPTLKIKTVAKKEVFEANLKSECDLWHLMVKEMWAGKKLADDHKDPQYVQQALTNVLLMDAVVGTLQSSGAIYAASKLAYFDKMKNELPMAVPKTTSETLKHKINPSAGETAPQAIEVLLYTPGRLDPAEKVEDAHPKLWCALNEGKVVVFDASSWTIHQHCFKVGSSKVNCMVMAEHSQVWVGSEDSVIYIINVHSMSCNKQLTDHRSAVTGLAVPSGKKPSAVYSCSLDGTVLAWNVSTLRVISRFQLQHGDLMSISLHNDRVFCCTARSILVVTLQGFVRQELRIQPSEEPSASFLAIQLLPEEQQLWVACTGVSELYIWSLKDLGQPPQKTHLQDCTEVTCMIRVKRQIWVGGRGLSQGKTRGKIYVMDVEKVTLEKELVAHSDTVRTLCSAEDRYVLSGAGGEEGKIAIWKVE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28254", "id": "28254", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Dennd3", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "start_pos": 1022, "alt_nt": "G", "chr_id": "8", "ref_nt": "A", "chr_pos": "142200442", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1022, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "alt_nt": "null", "chr_id": "8", "ref_nt": "A", "chr_pos": "141192408G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374514837", "id": "rs1374514837", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374514837#frequency_tab", "id": "rs1374514837", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 1073, "keywords": [ "ebi", "germline" ], "end_pos": 1073, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS)." }, { "sequence_org": "M", "alt_nt": "null", "chr_id": "8", "ref_nt": "C", "chr_pos": "141192644T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448935630", "id": "rs1448935630", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1448935630#frequency_tab", "id": "rs1448935630", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448935630", "id": "rs1448935630", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 1126, "keywords": [ "ebi", "germline" ], "end_pos": 1126, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT)." }, { "sequence_org": "L", "start_pos": 211, "alt_nt": "A", "chr_id": "8", "ref_nt": "C", "chr_pos": "142161733", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 211, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 217, "alt_nt": "A", "chr_id": "8", "ref_nt": "G", "chr_pos": "142161751", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.6", "sequence_mut": "I", "subjects_tested": "160", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs571831372.", "end_pos": 217, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "alt_nt": "null", "chr_id": "8", "ref_nt": "A", "chr_pos": "141155889G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759563170", "id": "rs759563170", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759563170", "id": "rs759563170", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs759563170", "id": "rs759563170", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 292, "keywords": [ "ebi", "germline" ], "end_pos": 292, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT)." }, { "sequence_org": "R", "start_pos": 2, "alt_nt": "A", "chr_id": "8", "ref_nt": "G", "chr_pos": "142146750", "disease": [ { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.3", "sequence_mut": "H", "subjects_tested": "78", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%).", "end_pos": 2, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 38, "alt_nt": "C", "chr_id": "8", "ref_nt": "A", "chr_pos": "142146858", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "A", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 38, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 551, "alt_nt": "A", "chr_id": "8", "ref_nt": "G", "chr_pos": "142178240", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138519822", "id": "rs138519822", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138519822", "id": "rs138519822", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138519822", "id": "rs138519822", "database": "NCI-TCGA" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs138519822#frequency_tab", "id": "rs138519822", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs138519822", "id": "rs138519822", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "0.2", "sequence_mut": "N", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DNS->NNS).", "end_pos": 551, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "H", "start_pos": 670, "alt_nt": "T", "chr_id": "8", "ref_nt": "A", "chr_pos": "142178598", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "L", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 670, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "start_pos": 719, "alt_nt": "A", "chr_id": "8", "ref_nt": "C", "chr_pos": "142185420", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "K", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 719, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "alt_nt": "null", "chr_id": "8", "ref_nt": "C", "chr_pos": "141176688A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201229068", "id": "rs201229068", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201229068", "id": "rs201229068", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201229068", "id": "rs201229068", "database": "ExAC" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 798, "keywords": [ "ebi", "germline" ], "end_pos": 798, "minor_allelic_frequency": "0.0002", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT)." }, { "sequence_org": "A", "start_pos": 830, "alt_nt": "T", "chr_id": "8", "ref_nt": "C", "chr_pos": "142188188", "disease": [ { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } }, { "disease_id": "DOID:11934", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "tumor of head and neck", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head/neck neoplasm", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck tumours", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck neoplasm", "id": "DOID:11934" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "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.", "name": "head and neck cancer", "id": "DOID:11934" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "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.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "V", "subjects_tested": "1044", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs1164686761.", "end_pos": 830, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "L", "alt_nt": "null", "chr_id": "8", "ref_nt": "C", "chr_pos": "141178104T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230266902", "id": "rs1230266902", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230266902#frequency_tab", "id": "rs1230266902", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 835, "keywords": [ "ebi", "germline" ], "end_pos": 835, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVL->NVS)." }, { "sequence_org": "S", "alt_nt": "null", "chr_id": "8", "ref_nt": "T", "chr_pos": "141178161C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767186988", "id": "rs767186988", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767186988", "id": "rs767186988", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs767186988", "id": "rs767186988", "database": "gnomAD" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_mut": "F", "start_pos": 854, "keywords": [ "ebi", "germline" ], "end_pos": 854, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F)." }, { "sequence_org": "S", "alt_nt": "null", "chr_id": "8", "ref_nt": "G", "chr_pos": "141178169T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157822352", "id": "rs1157822352", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157822352", "id": "rs1157822352", "database": "gnomAD" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_mut": "A", "start_pos": 857, "keywords": [ "ebi", "germline" ], "end_pos": 857, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A)." }, { "sequence_org": "P", "start_pos": 884, "alt_nt": "T", "chr_id": "8", "ref_nt": "C", "chr_pos": "142190900", "disease": [ { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - skin cancer", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of skin", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "melanoma and Non-melanoma skin cancer", "id": "DOID:4159" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "name": "skin cancer", "id": "DOID:4159" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NLS).", "end_pos": 884, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "M", "alt_nt": "null", "chr_id": "8", "ref_nt": "C", "chr_pos": "141188993T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454390770", "id": "rs1454390770", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454390770", "id": "rs1454390770", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 951, "keywords": [ "ebi", "germline" ], "end_pos": 951, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": {}, "reaction_enzymes": [], "site_annotation": [ { "end_pos": 1019, "annotation": "n_glycosylation_sequon", "start_pos": 1017 }, { "end_pos": 1060, "annotation": "n_glycosylation_sequon", "start_pos": 1058 }, { "end_pos": 490, "annotation": "n_glycosylation_sequon", "start_pos": 488 }, { "end_pos": 509, "annotation": "n_glycosylation_sequon", "start_pos": 507 }, { "end_pos": 75, "annotation": "n_glycosylation_sequon", "start_pos": 73 }, { "end_pos": 932, "annotation": "n_glycosylation_sequon", "start_pos": 930 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND3", "id": "DENND3", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/22898", "id": "22898", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29134", "id": "29134", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RUS2*", "id": "A2RUS2", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001194", "id": "IPR001194", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "id": "IPR001680", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005112", "id": "IPR005112", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005113", "id": "IPR005113", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "id": "IPR015943", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017986", "id": "IPR017986", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019775", "id": "IPR019775", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "id": "IPR036322", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037516", "id": "IPR037516", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR043153", "id": "IPR043153", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "id": "hsa:22898", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/617503", "id": "617503", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2RUS2", "id": "NX_A2RUS2", "database": "neXtProt" }, { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2", "id": "A2RUS2", "database": "O-GlcNAc Database" }, { "url": "https://omabrowser.org/oma/group/VCIISKF/", "id": "VCIISKF", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=521943at2759", "id": "521943at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00400", "id": "PF00400", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02141", "id": "PF02141", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF03456", "id": "PF03456", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2RUS2", "id": "A2RUS2", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2RUS2", "id": "PR_A2RUS2", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772", "id": "NP_055772", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772.2", "id": "NP_055772.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2-1", "id": "A2RUS2-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2-2", "id": "A2RUS2-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2-3", "id": "A2RUS2-3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2-4", "id": "A2RUS2-4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/B3KRG7", "id": "B3KRG7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/B3KRG7-1", "id": "B3KRG7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RH95", "id": "E5RH95", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RH95-1", "id": "E5RH95-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RHH2", "id": "E5RHH2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RHH2-1", "id": "E5RHH2-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RI43", "id": "E5RI43", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RI43-1", "id": "E5RI43-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RIR7", "id": "E5RIR7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RIR7-1", "id": "E5RIR7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RJ42", "id": "E5RJ42", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E5RJ42-1", "id": "E5RJ42-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E9PF32", "id": "E9PF32", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E9PF32-1", "id": "E9PF32-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YAW2", "id": "H0YAW2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YAW2-1", "id": "H0YAW2-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YAY3", "id": "H0YAY3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YAY3-1", "id": "H0YAY3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YBH5", "id": "H0YBH5", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YBH5-1", "id": "H0YBH5-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YBK9", "id": "H0YBK9", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0YBK9-1", "id": "H0YBK9-1", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3907", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "", "name": "Epidermoid cell carcinoma of the lung", "id": "DOID:3907" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "name": "lung squamous cell carcinoma", "id": "DOID:3907" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3910", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "nonsmall cell adenocarcinoma", "id": "DOID:3910" }, { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "bronchogenic lung adenocarcinoma", "id": "DOID:3910" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "A lung cancer that derives_from epithelial cells of glandular origin.", "name": "lung adenocarcinoma", "id": "DOID:3910" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [ { "residue": "Ser", "site_category": "reported_with_glycan", "end_pos": 854, "evidence": [ { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2", "id": "A2RUS2", "database": "O-GlcNAc Database" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "id": "29351928", "database": "PubMed" } ], "subtype": "O-GlcNAcylation", "relation": "attached", "start_pos": 854, "glytoucan_ac": "G49108TO", "type": "O-linked" }, { "residue": "Ser", "site_category": "reported_with_glycan", "end_pos": 857, "evidence": [ { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2RUS2", "id": "A2RUS2", "database": "O-GlcNAc Database" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "id": "29351928", "database": "PubMed" } ], "subtype": "O-GlcNAcylation", "relation": "attached", "start_pos": 857, "glytoucan_ac": "G49108TO", "type": "O-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Thr", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 1144, "end_pos": 1144, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "start_pos": 472, "end_pos": 472, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "start_pos": 490, "end_pos": 490, "kinase_uniprot_canonical_ac": "" }, { "residue": "Tyr", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "start_pos": 858, "end_pos": 858, "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 135890.0, "chemical_mass": 135890.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "name": "DENND3", "locus": { "end_pos": 141195808, "strand": "+", "start_pos": 141117278, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000105339", "id": "ENSG00000105339", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUS2", "type": "synonym", "resource": "RefSeq", "name": "DENN domain-containing protein 3 isoform 2" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "DENN domain-containing protein 3" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "DENN/MADD domain containing 3, isoform CRA_d" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUS2", "type": "synonym", "resource": "RefSeq", "name": "DENN/MADD domain containing 3; DENN domain-containing protein 3" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "cDNA FLJ34237 fis, clone FCBBF3027328" } ] }