{ "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": "DEND3_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "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", "site_annotation": [ { "end_pos": 932, "annotation": "n_glycosylation_sequon", "start_pos": 930 }, { "end_pos": 1060, "annotation": "n_glycosylation_sequon", "start_pos": 1058 }, { "end_pos": 1019, "annotation": "n_glycosylation_sequon", "start_pos": 1017 }, { "end_pos": 509, "annotation": "n_glycosylation_sequon", "start_pos": 507 }, { "end_pos": 490, "annotation": "n_glycosylation_sequon", "start_pos": 488 }, { "end_pos": 75, "annotation": "n_glycosylation_sequon", "start_pos": 73 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAY3-1", "isoform_ac": "H0YAY3-1", "locus": { "end_pos": 141128779, "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|DEND3_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#E5RH95-1", "isoform_ac": "E5RH95-1", "locus": { "end_pos": 141128708, "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|DEND3_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#E5RJ42-1", "isoform_ac": "E5RJ42-1", "locus": { "end_pos": 141136608, "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|DEND3_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#H0YBK9-1", "isoform_ac": "H0YBK9-1", "locus": { "end_pos": 141192331, "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|DEND3_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" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RIR7-1", "isoform_ac": "E5RIR7-1", "locus": { "end_pos": 141128708, "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|DEND3_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#E9PF32-1", "isoform_ac": "E9PF32-1", "locus": { "end_pos": 141128708, "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|DEND3_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#H0YBH5-1", "isoform_ac": "H0YBH5-1", "locus": { "end_pos": 141178121, "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|DEND3_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#E5RHH2-1", "isoform_ac": "E5RHH2-1", "locus": { "end_pos": 141128708, "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|DEND3_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#B3KRG7-1", "isoform_ac": "B3KRG7-1", "locus": { "end_pos": 141188992, "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|DEND3_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": 248, "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RI43-1", "isoform_ac": "E5RI43-1", "locus": { "end_pos": 141128708, "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|DEND3_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#A2RUS2-2", "isoform_ac": "A2RUS2-2", "locus": { "end_pos": 141136647, "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#A2RUS2-1", "isoform_ac": "A2RUS2-1", "locus": { "end_pos": 141136647, "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#A2RUS2-4", "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#H0YAW2-1", "isoform_ac": "H0YAW2-1", "locus": { "end_pos": 141141203, "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|DEND3_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" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "resource": "Reactome", "id": "R-HSA-8876198", "name": "RAB GEFs exchange GTP for GDP on RABs" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "resource": "KEGG Pathway", "id": "hsa:22898", "name": "" } ], "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": "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" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "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" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "V", "start_pos": 217, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "resource": "Disease Ontology", "name": "Ocular tumor", "description": "" }, { "id": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "resource": "Disease Ontology", "name": "eye neoplasm", "description": "" }, { "id": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "resource": "Disease Ontology", "name": "malignant eye neoplasm", "description": "" }, { "id": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "resource": "Disease Ontology", "name": "neoplasm of eye", "description": "" }, { "id": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "resource": "Disease Ontology", "name": "neoplasm of eye proper", "description": "" } ], "recommended_name": { "id": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "resource": "Disease Ontology", "name": "ocular cancer", "description": "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye." } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "description": "" } ], "recommended_name": { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "I", "subjects_tested": "160", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 217, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs571831372." }, { "sequence_org": "K", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "T", "start_pos": 798, "keywords": [ "ebi", "disease" ], "end_pos": 798, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT)." }, { "sequence_org": "D", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "N", "start_pos": 1073, "keywords": [ "ebi", "disease" ], "end_pos": 1073, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS)." }, { "sequence_org": "D", "start_pos": 551, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } }, { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "frequency": "0.2", "sequence_mut": "N", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "end_pos": 551, "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DNS->NNS)." }, { "sequence_org": "N", "start_pos": 719, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "K", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 719, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "L", "start_pos": 211, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 211, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "L", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "S", "start_pos": 835, "keywords": [ "ebi", "disease" ], "end_pos": 835, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVL->NVS)." }, { "sequence_org": "D", "start_pos": 38, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "A", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 38, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "M", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "T", "start_pos": 1126, "keywords": [ "ebi", "disease" ], "end_pos": 1126, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT)." }, { "sequence_org": "H", "start_pos": 670, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "L", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 670, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "P", "start_pos": 884, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 884, "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NLS)." }, { "sequence_org": "S", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "A", "start_pos": 857, "keywords": [ "ebi", "disease" ], "end_pos": 857, "annotation": "Germline mutation passed 1 out of 1 filters: o-glyco-sequon-loss (S->A)." }, { "sequence_org": "A", "start_pos": 830, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "description": "" } ], "recommended_name": { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } }, { "synonyms": [ { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "V", "subjects_tested": "1044", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 830, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs1164686761." }, { "sequence_org": "S", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "F", "start_pos": 854, "keywords": [ "ebi", "disease" ], "end_pos": 854, "annotation": "Germline mutation passed 1 out of 1 filters: o-glyco-sequon-loss (S->F)." }, { "sequence_org": "S", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "N", "start_pos": 292, "keywords": [ "ebi", "disease" ], "end_pos": 292, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT)." }, { "sequence_org": "R", "start_pos": 2, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.3", "sequence_mut": "H", "subjects_tested": "78", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%)." }, { "sequence_org": "M", "disease": [ { "synonyms": [ { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "LQT1", "description": "" }, { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "ventricular fibrillation with prolonged QT interval", "description": "" } ], "recommended_name": { "id": "0110644", "url": "http://disease-ontology.org/term/DOID:0110644", "resource": "Disease Ontology", "name": "long QT syndrome 1", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." } } ], "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" } ], "sequence_mut": "T", "start_pos": 951, "keywords": [ "ebi", "disease" ], "end_pos": 951, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT)." }, { "sequence_org": "Q", "start_pos": 1022, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1022, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "refseq": {}, "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" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "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": 1, "name": "Cellular Component" }, { "go_terms": [ { "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": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "type": "synonym", "resource": "UniProtKB", "name": "KIAA0870" }, { "url": "https://www.uniprot.org/uniprot/A2RUS2", "type": "recommended", "resource": "UniProtKB", "name": "DENND3" } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "id": "IPR015943", "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/IPR001194", "id": "IPR001194", "database": "InterPro" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" }, { "url": "https://www.nextprot.org/entry/NX_A2RUS2", "id": "NX_A2RUS2", "database": "neXtProt" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/22898", "id": "22898", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "id": "IPR036322", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "id": "hsa:22898", "database": "KEGG Pathway" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037516", "id": "IPR037516", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A2RUS2", "id": "A2RUS2", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RUS2", "id": "PR_A2RUS2", "database": "PRO" }, { "url": "http://www.omim.org/entry/617503", "id": "617503", "database": "MIM" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RUS2*", "id": "A2RUS2", "database": "IntAct" }, { "url": "http://pfam.xfam.org/family/PF02141", "id": "PF02141", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772.2", "id": "NP_055772.2", "database": "RefSeq" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017986", "id": "IPR017986", "database": "InterPro" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29134", "id": "29134", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019775", "id": "IPR019775", "database": "InterPro" }, { "url": "http://www.orthodb.org/?query=521943at2759", "id": "521943at2759", "database": "OrthoDB" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND3", "id": "DENND3", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "expression_disease": [ { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "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": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "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": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "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": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "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": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "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": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" } ], "glycosylation": [ { "residue": "Ser", "site_category": "reported_with_glycan.glygen_ds", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "id": "29351928", "database": "PubMed" } ], "subtype": "O-GlcNAcylation", "position": 857, "glytoucan_ac": "G49108TO", "type": "o-linked" }, { "residue": "Ser", "site_category": "reported_with_glycan.glygen_ds", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "id": "29351928", "database": "PubMed" } ], "subtype": "O-GlcNAcylation", "position": 854, "glytoucan_ac": "G49108TO", "type": "o-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Thr", "position": "1144", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ] }, { "residue": "Tyr", "position": "858", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ] }, { "residue": "Ser", "position": "472", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ] }, { "residue": "Ser", "position": "490", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ] } ], "mass": { "monoisotopic_mass": 135890.0, "chemical_mass": 135890.0 }, "expression_tissue": [ { "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_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_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_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_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_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_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_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_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_0009853", "uberon": "0009853", "name": "Body of uterus" }, "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_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_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_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_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_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_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_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_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_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_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "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, "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", "type": "recommended", "resource": "UniProtKB", "name": "DENN domain-containing protein 3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUS2", "type": "synonym", "resource": "RefSeq", "name": "DENN domain-containing protein 3; DENN/MADD domain containing 3" } ] }