{ "uniprot_canonical_ac": "A2VDJ0-1", "ptm_annotation": [], "sequence": { "header": "sp|A2VDJ0-1|T131L_HUMAN Isoform 1 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1", "length": 1609, "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" }, "uniprot_id": "T131L_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly", "reported.glygen_ds" ], "species": [ { "common_name": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "type": [ "PubMed" ], "id": "24190977" } ], "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "type": [ "PubMed" ], "id": "11230166" } ], "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "authors": "Ansorge W., Bauersachs S., Beyer A., Bloecker H., Blum H., Boecher M., Duesterhoeft A., Gassenhuber J., Glassl S., Heubner D., Klein M., Koehrer K., Korn B., Lauber J., Mewes H.-W., Obermaier B., Ottenwaelder B., Poustka A., Strack N., Tampe J., Wambutt R., Weil B., Wellenreuther R., Wiemann S.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23690469", "type": [ "PubMed" ], "id": "23690469" } ], "title": "Identification of TMEM131L as a novel regulator of thymocyte proliferation in humans.", "journal": "J. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "id": "NP_001124479.1", "database": "RefSeq" } ], "authors": "Canque B., Gluckman J.C., Maharzi N., Nelson E., Parcelier A., Parietti V., Pla M., Robledo-Sarmiento M., Sigaux F., Setterblad N., Denti S.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28347816", "type": [ "PubMed" ], "id": "28347816" } ], "title": "Evolutionary conservation of Notch signaling inhibition by TMEM131L overexpression.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "id": "NP_001124479.1", "database": "RefSeq" } ], "authors": "Szuplewski S, Maharzi N, Nelson E, Alhaj Hussen K, Mignotte B, Guenal I, Canque B", "date": "2017" } ], "uniprot_ac": "A2VDJ0", "site_annotation": [ { "end_pos": 1047, "annotation": "n_glycosylation_sequon", "start_pos": 1045 }, { "end_pos": 1367, "annotation": "n_glycosylation_sequon", "start_pos": 1365 }, { "end_pos": 441, "annotation": "n_glycosylation_sequon", "start_pos": 439 }, { "end_pos": 1424, "annotation": "n_glycosylation_sequon", "start_pos": 1422 }, { "end_pos": 1212, "annotation": "n_glycosylation_sequon", "start_pos": 1210 }, { "end_pos": 811, "annotation": "n_glycosylation_sequon", "start_pos": 809 }, { "end_pos": 524, "annotation": "n_glycosylation_sequon", "start_pos": 522 }, { "end_pos": 711, "annotation": "n_glycosylation_sequon", "start_pos": 709 }, { "end_pos": 405, "annotation": "n_glycosylation_sequon", "start_pos": 403 }, { "end_pos": 651, "annotation": "n_glycosylation_sequon", "start_pos": 649 }, { "end_pos": 848, "annotation": "n_glycosylation_sequon", "start_pos": 846 }, { "end_pos": 175, "annotation": "n_glycosylation_sequon", "start_pos": 173 }, { "end_pos": 595, "annotation": "n_glycosylation_sequon", "start_pos": 593 }, { "end_pos": 910, "annotation": "n_glycosylation_sequon", "start_pos": 908 }, { "end_pos": 227, "annotation": "n_glycosylation_sequon", "start_pos": 225 }, { "end_pos": 345, "annotation": "n_glycosylation_sequon", "start_pos": 343 }, { "end_pos": 270, "annotation": "n_glycosylation_sequon", "start_pos": 268 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#F8WEQ2-1", "isoform_ac": "F8WEQ2-1", "locus": { "end_pos": 153466398, "start_pos": 153550090, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000445960", "id": "ENST00000445960", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000413054", "id": "ENSP00000413054", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WEQ2-1|T131L_HUMAN Computationally mapped isoform of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=1 CANONICAL=A2VDJ0-1", "length": 71, "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQLLGQTI" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#A2VDJ0-6", "isoform_ac": "A2VDJ0-6", "locus": {}, "sequence": { "header": "sp|A2VDJ0-6|T131L_HUMAN Isoform 6 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1", "length": 1462, "sequence": "MGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#A2VDJ0-5", "isoform_ac": "A2VDJ0-5", "locus": { "end_pos": 153466398, "start_pos": 153636573, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409959", "id": "ENST00000409959", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386787", "id": "ENSP00000386787", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2VDJ0-5|T131L_HUMAN Isoform 5 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1", "length": 1610, "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#A2VDJ0-2", "isoform_ac": "A2VDJ0-2", "locus": {}, "sequence": { "header": "sp|A2VDJ0-2|T131L_HUMAN Isoform 2 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1", "length": 1239, "sequence": "MLLVLECVLFSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#A2VDJ0-3", "isoform_ac": "A2VDJ0-3", "locus": {}, "sequence": { "header": "sp|A2VDJ0-3|T131L_HUMAN Isoform 3 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1", "length": 1526, "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#A2VDJ0-1", "isoform_ac": "A2VDJ0-1", "locus": { "end_pos": 153466398, "start_pos": 153636573, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409663", "id": "ENST00000409663", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386574", "id": "ENSP00000386574", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2VDJ0-1|T131L_HUMAN Isoform 1 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1", "length": 1609, "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#H0Y2M0-1", "isoform_ac": "H0Y2M0-1", "locus": { "end_pos": 153555896, "start_pos": 153636573, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000240487", "id": "ENST00000240487", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000240487", "id": "ENSP00000240487", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y2M0-1|T131L_HUMAN Computationally mapped isoform of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=1 CANONICAL=A2VDJ0-1", "length": 1387, "sequence": "PVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23240", "resource": "KEGG Pathway", "id": "hsa:23240", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "annotation": "These results show that TMEM131L corresponds to an evolutionary conserved regulator of the Notch signaling pathway.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "id": "NP_001124479.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "annotation": "These data indicate that, during thymopoiesis, stage-specific surface translocation of TMEM131L may regulate immature single-positive thymocyte proliferation arrest", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "id": "NP_001124479.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#function", "annotation": "Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#function", "id": "A2VDJ0", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3U3D7-1", "protein_name": "Transmembrane protein 131-like", "sequence": { "length": 1597, "sequence": "MAGLRRPQSGAYRRTAAAVNLLLGVFQVLLSCCRPGGAQGQAFEPLPNVVELWQAEEGELLLPTQGDSEEDMEEPSQEQSFSDKLFIGKGLHFQPSVLDFGIQFLGHPAAKLLYAYNPSRESEVVVNSVFTAARHFHVPPVHCRVIPAMGKASFRVIFLPTEEGSIESSLFINTSSHGVFSYHVSGVGTRRVSTEGSAEQLPNAYFLLPQVQSIQLSQTQAETTNTSLLRVQLECSLHNKVCQQLKSCSLGSDDALHLEMNIIVAVENSSKQPEENTQALLDHLSIVYVATDESDTSDESAVNMYVLHSGNSLIWIQDIHHFSQKNVLSLQFEPVLLSTSTTNFTKIASFTCKAGTSCDSGIMGLRKKKASPAMQACLSSPVVQGYFRTDASTAQFHIESHETATGVWSIWYRSHFDQSIVLKDVFVSKETKHILKVLSFRGPLFLPPGCWNIFSLKLAVKGIVLNLFTNVFLTTNTGAIFAIPLQIFSAPTKEGSLGFEVLAHCGMHYFMGKSKTENPNWERSLSLDRSTWDMDSELANKLYERWKKYKSGDACRRNVLGMSQFAFTKKSKETEPFVSFLPRVVPEPNLVLNFSATALRNSAVKYFVVRNPTPQPVSLQLLPLSLYPRPEAAVRLLHKWFGTDMQMVNLSTGEFQLTQACPYQGEPSEESSLGALHVHLQALETRRVGVVFTPADYGKVTSLILIRNNLTVVDMVGVEGFGAQELLKVGGRLPGAGGSLRFKVPESTLMDCHRQLKDSKQILSITKNFKVENIGPLPITVTSLKINGYNCQGYGFEVLDCHPFSLSPNTSRDISIVFTPDFTSSWVIRELTLVTAADLEFHFTLNVTLPHHMLPLCAEVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNGSSSSQQNGDPVAMISSHPHKSTCKNFLDTYSPSDKGRGKSCLPVGPSLSRLQNAAKRSPATYGHSQKKHKCSFYYSKQKPSASAASSANVTTEEKQTVTLASSLSVAKEDICTNVLSENWVSLRYASGINGSLQKNLTLPKNVLHKEESSLKNTVVTNTPSECSMKEGVHTYMFPKETDSKISENVAELKEQEPCPQKTSKKPPESTLPKTPPQYLQSDLPEVSRKHGNKQQAPVRSEVDSFEPVRAADAEPSSVRKTQGASPEDTCSEKQDTPSAEQEDPSRKRKLQERREGSTQALNWNKTRPCRRNKKRASAQASSSPRPSEQSEQRLVCSDVRSWCAQDGAGEKCKAGTEVSGSSPERREEDSYYQKSEKKCADKFCSDSSSDCGSSSGSVRASRGSWGSWSSSSSDCDRRPVVDIQHFLPPGDGVSPQNFPSEASVPLSLPQHVCSSTDVSVLPEFTESPCPGLPATPAGAGEEKGLYPPGGLWPSQPVCLTSSFNCPVENGAPGVSQEPTSIPDSSFIDWSASCEGQFPSVYCPLELNDYNAFPEENMNYTNGFPCSSKVQTDFIGHSTPSTWNTPASMPAAWGHASLVNSPSYLTSTRSLSPMSGLFGSIWAPQSEVYETCCPISPATEHATHMENQVMCKEYYLGFNPFRAYMNLDIWTSTANRNANFPLSRDSSYCGNM" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/9057", "id": "9057", "database": "MGI" } ], "common_name": "mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "D3ZRG1-1", "protein_name": "Transmembrane 131-like", "sequence": { "length": 1596, "sequence": "MAGLRRPQSGAYRRTAAAVNLLLGVFQVLLSCCRPGGAQGQAFEPLPNVVELWQAEEGELLLPTQGDSEEDMEEPSQEQSFSDKLFIGKGLHFQPSVLDFGIQFLGYPAAKLLYAYNPSRDSEVVVNSVFTAARHFHVPPVHCRVIPAMGKTSFRIIFLPTEEGSFESSLFINTSSHGVFSYHVSGVGTRRASTEGSAEQLPNAHLLLPQVQSIQLSQTQAETTNTSLLRVQLECSLHNKVCQQLKSCYLGSDDTLHLEMNIIVAVENSSKQPEENTQALLDHLTIVYVATDESETSDESAVNMYVLHSGSSLIWIQDIHHFSQKNLLSLQFEPVLLSTSTTNFTKVASFTCRAGTSCDSGIVGIRRRKDTPTMKACLSSPVVQGYFRVDASTAQFHIESHKTATGVWSIWYQGHFDHSIVLKDVFVSKETKHILKVLSFRGPLFLPPGCWNIFSLKLAVKGVVLNLFTNVFLTTNTGAVFAIPLQIFSAPAKEGSLGFEVLAHCGMHYFMGKSKPETPDWERSLSLDRSTWDVDSELANKLYERWKKYKNGDVCRRNVLGMSQFAFAKKSKETEPFVSFLPRVVLEPGLVLNFSATALRNSVVKYFVVRNPSPWPVSLQLLPLSLYPRPEAAVRLLYKWFGTDMQMVNLSTGEFQLTKACPYQGEPSEESSLGALHVHLQPFDMRKVGVVFTPADYGKVTSLILIRNNLTVVDMVGVEGFGAQELLKVGGRLPGAGGSLRFKVPESTLMDCHRQLKDSKQILSITKNFKVENVGPLPITVTSLKINGYNCQGYGFEVLDCHPFSLSPNTSRDISIVFTPDFTSSWVIRELTLVTAAELEFHFTLNVTLPHHMLPLCAEVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNGSSSPQQNGDPVDMISSHSHKSTCKNFLDTYSPSDKGRGKSCLPVGPPLSRLQNAAKRSPATYSHSQKKHKCSFYYSKQKPSASTASSANITTEEKQTVTLASSLSAAKEDLCTNILNENWASLRYASGVNGSLQRNLTLPKNVLNKEESSLKNTVVSNTSSECSMKEGIQTCMFPKETDSKISEHVAELKEQEPCPQKTSKKPPESTLPKTPPQYPQSDLPEVSRKHGNNQQVPVKNEVDSFETVKAVDTKLSSVKKTQRESPEDTCSEKQDSPSAEQDDPYRKRKLQEKREGNTQTLNWNKTRTCRKHKKRASVQAPSSPRPSEQSEQRLVCSDVRSWCAQDSTGETCKAGIEIVGDSPVRREEDSSYQKSEKKCADKFCSDSSSDCGSSSGSVRASRGSRDSWSSSSSDCDRKPVVDIQQFLPPGDGVSPRDSPSEASMPLSLPQHVCSSTDVNGLSGFTESCPGLPAAPADAGEEKGLYPPGGLWPSQPVCLTSSFNCPVENGAPGVSEEPTSIPDSSFIDWSTSCEGQFSSVYCPLELNGYNAFPEENMNYTNGFPCSSKVQTDFIGHGTSSTWNTPASMPAAWGHASLVNSPSYLTSTRSLSPMSGLFGSIWAPQSDAYENCCPVSPATEHSTHMENQVMCKEYYLGFNPFRAYMNLDIWTSTANRSANFPLSRDSGYCGNV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/9057", "id": "9057", "database": "MGI" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 1104, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "154525477", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "I", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "end_pos": 1104, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "153591163", "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=rs1257257149", "id": "rs1257257149", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257257149", "id": "rs1257257149", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 593, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 593, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS)." }, { "sequence_org": "D", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153585552", "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=rs763681554", "id": "rs763681554", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763681554", "id": "rs763681554", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs763681554", "id": "rs763681554", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 417, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 417, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRS->NRS)." }, { "sequence_org": "I", "alt_nt": "G", "chr_id": "4", "ref_nt": "T", "chr_pos": "153604206", "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=rs771040409", "id": "rs771040409", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771040409", "id": "rs771040409", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs771040409", "id": "rs771040409", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 1064, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1064, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTS)." }, { "sequence_org": "D", "start_pos": 1303, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154544100", "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": "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": [ { "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373363345", "id": "rs373363345", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373363345", "id": "rs373363345", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373363345", "id": "rs373363345", "database": "NCI-TCGA" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs373363345#frequency_tab", "id": "rs373363345", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs373363345", "id": "rs373363345", "database": "gnomAD" } ], "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 (DSS->NSS).", "end_pos": 1303, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153588922", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750534236", "id": "rs750534236", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750534236", "id": "rs750534236", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs750534236", "id": "rs750534236", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 390, "keywords": [ "ebi", "germline" ], "end_pos": 390, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS)." }, { "sequence_org": "G", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153586332", "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=rs1439175853", "id": "rs1439175853", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439175853", "id": "rs1439175853", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 478, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 478, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIG->NIS)." }, { "sequence_org": "T", "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "153586222", "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=rs1213537364", "id": "rs1213537364", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213537364", "id": "rs1213537364", "database": "gnomAD" } ], "sequence_mut": "I", "start_pos": 441, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 441, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI)." }, { "sequence_org": "N", "start_pos": 846, "alt_nt": "T", "chr_id": "4", "ref_nt": "A", "chr_pos": "154523780", "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "I", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVT->IVT).", "end_pos": 846, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "153602628", "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=rs1362636811", "id": "rs1362636811", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1362636811#frequency_tab", "id": "rs1362636811", "database": "TOPMed" } ], "sequence_mut": "S", "start_pos": 846, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 846, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT)." }, { "sequence_org": "D", "start_pos": 813, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154523477", "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": "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371503083", "id": "rs371503083", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371503083", "id": "rs371503083", "database": "ExAC" } ], "frequency": "0.4", "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 (DIS->NIS).", "end_pos": 813, "minor_allelic_frequency": "", "subjects_positive": "2" }, { "sequence_org": "M", "start_pos": 645, "alt_nt": "C", "chr_id": "4", "ref_nt": "T", "chr_pos": "154514965", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 645, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "L", "alt_nt": "C", "chr_id": "4", "ref_nt": "T", "chr_pos": "153604170", "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=rs372011067", "id": "rs372011067", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs372011067#frequency_tab", "id": "rs372011067", "database": "TOPMed" } ], "sequence_mut": "S", "start_pos": 1053, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1053, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLL->NLS)." }, { "sequence_org": "D", "start_pos": 1340, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "154544213", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1340, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 1523, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154557466", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "1.3", "sequence_mut": "N", "subjects_tested": "78", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%).", "end_pos": 1523, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "C", "start_pos": 752, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154519876", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 752, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "153580846", "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=rs761626217", "id": "rs761626217", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761626217", "id": "rs761626217", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs761626217", "id": "rs761626217", "database": "gnomAD" } ], "sequence_mut": "R", "start_pos": 227, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 227, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTR)." }, { "sequence_org": "S", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153473888", "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=rs1391487187", "id": "rs1391487187", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391487187", "id": "rs1391487187", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 80, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 80, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS)." }, { "sequence_org": "N", "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "153586216", "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=rs760344209", "id": "rs760344209", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760344209", "id": "rs760344209", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs760344209", "id": "rs760344209", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 439, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 439, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT)." }, { "sequence_org": "Y", "start_pos": 1571, "alt_nt": "A", "chr_id": "4", "ref_nt": "T", "chr_pos": "154557609", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "N", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 1571, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153620832", "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=rs1257629934", "id": "rs1257629934", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257629934#frequency_tab", "id": "rs1257629934", "database": "TOPMed" } ], "sequence_mut": "N", "start_pos": 1214, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1214, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRT->NRT)." }, { "sequence_org": "K", "start_pos": 572, "alt_nt": "T", "chr_id": "4", "ref_nt": "G", "chr_pos": "154512253", "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." } }, { "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/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761575549", "id": "rs761575549", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761575549", "id": "rs761575549", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs761575549", "id": "rs761575549", "database": "gnomAD" } ], "frequency": "0.5", "sequence_mut": "N", "subjects_tested": "194", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KES->NES). In dbSNP: rs761575549.", "end_pos": 572, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "C", "chr_id": "4", "ref_nt": "A", "chr_pos": "153620820", "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=rs371116715", "id": "rs371116715", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs371116715#frequency_tab", "id": "rs371116715", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs371116715", "id": "rs371116715", "database": "gnomAD" } ], "sequence_mut": "T", "start_pos": 1210, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1210, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLT)." }, { "sequence_org": "R", "start_pos": 190, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154479429", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 190, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "153592500", "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=rs1166328405", "id": "rs1166328405", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166328405", "id": "rs1166328405", "database": "gnomAD" } ], "sequence_mut": "L", "start_pos": 612, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 612, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS)." }, { "sequence_org": "D", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153588922", "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=rs750534236", "id": "rs750534236", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750534236", "id": "rs750534236", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs750534236", "id": "rs750534236", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 528, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 528, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQS->NQS)." }, { "sequence_org": "T", "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "153602633", "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=rs1270834209", "id": "rs1270834209", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270834209#frequency_tab", "id": "rs1270834209", "database": "TOPMed" } ], "sequence_mut": "A", "start_pos": 848, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 848, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVA)." }, { "sequence_org": "T", "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "153602634", "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=rs749302310", "id": "rs749302310", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749302310", "id": "rs749302310", "database": "ExAC" } ], "sequence_mut": "I", "start_pos": 848, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 848, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI)." }, { "sequence_org": "P", "start_pos": 1553, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "154557555", "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." } }, { "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265", "id": "rs756932265", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265", "id": "rs756932265", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265", "id": "rs756932265", "database": "NCI-TCGA" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs756932265", "id": "rs756932265", "database": "gnomAD" } ], "frequency": "0.1", "sequence_mut": "S", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NST).", "end_pos": 1553, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153603418", "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=rs757212655", "id": "rs757212655", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757212655", "id": "rs757212655", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs757212655#frequency_tab", "id": "rs757212655", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs757212655", "id": "rs757212655", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 918, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 918, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS)." }, { "sequence_org": "E", "start_pos": 1273, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154542962", "disease": [ { "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "K", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 1273, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153634206", "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=rs1174785259", "id": "rs1174785259", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174785259#frequency_tab", "id": "rs1174785259", "database": "TOPMed" } ], "sequence_mut": "N", "start_pos": 1447, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1447, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAT->NAT)." }, { "sequence_org": "P", "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "153636538", "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=rs140295633", "id": "rs140295633", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140295633", "id": "rs140295633", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs140295633#frequency_tab", "id": "rs140295633", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs140295633", "id": "rs140295633", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 1598, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1598, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS)." }, { "sequence_org": "I", "start_pos": 604, "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "154513627", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 604, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "153636403", "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=rs756932265", "id": "rs756932265", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265", "id": "rs756932265", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs756932265", "id": "rs756932265", "database": "gnomAD" } ], "sequence_mut": "T", "start_pos": 1553, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1553, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NTT)." }, { "sequence_org": "Q", "start_pos": 103, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "154471292", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 103, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "153604137", "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=rs761545204", "id": "rs761545204", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761545204", "id": "rs761545204", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs761545204#frequency_tab", "id": "rs761545204", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs761545204", "id": "rs761545204", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 1041, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1041, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS)." }, { "sequence_org": "A", "start_pos": 964, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "154525057", "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." } }, { "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/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1352105861", "id": "rs1352105861", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1352105861#frequency_tab", "id": "rs1352105861", "database": "TOPMed" } ], "frequency": "0.1", "sequence_mut": "T", "subjects_tested": "1042", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAA->NAT).", "end_pos": 964, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "153623012", "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=rs1351692138", "id": "rs1351692138", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351692138", "id": "rs1351692138", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 1324, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 1324, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SWS->NWS)." } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "ac": "NP_001124479.1", "name": "transmembrane protein 131-like isoform 1 precursor", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "23690469", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "23690469", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "pmid": "23690469", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "pmid": "23690469", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "Wnt signaling pathway", "id": "GO:0016055" } ], "total": 3, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VDJ0", "type": "synonym", "resource": "RefSeq", "name": "TMEM131L" }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "type": "synonym", "resource": "UniProtKB", "name": "KIAA0922" }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "type": "recommended", "resource": "UniProtKB", "name": "TMEM131L" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VDJ0", "type": "synonym", "resource": "RefSeq", "name": "KIAA0922" } ], "crossref": [ { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22050", "id": "PTHR22050", "database": "PANTHER" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR039877", "id": "IPR039877", "database": "InterPro" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" }, { "url": "https://omabrowser.org/oma/group/LQTCMFP/", "id": "LQTCMFP", "database": "OMA" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM131L", "id": "TMEM131L", "database": "GeneCards" }, { "url": "http://www.orthodb.org/?query=826997at2759", "id": "826997at2759", "database": "OrthoDB" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/23240", "id": "23240", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR022113", "id": "IPR022113", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A2VDJ0", "id": "A2VDJ0", "database": "PHAROS" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479.1", "id": "NP_001124479.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29146", "id": "29146", "database": "HGNC" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121210", "id": "ENSG00000121210", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2VDJ0*", "id": "A2VDJ0", "database": "IntAct" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2VDJ0", "id": "PR_A2VDJ0", "database": "PRO" }, { "url": "http://pfam.xfam.org/family/PF12371", "id": "PF12371", "database": "Pfam" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23240", "id": "hsa:23240", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/616243", "id": "616243", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2VDJ0", "id": "NX_A2VDJ0", "database": "neXtProt" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "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/A2VDJ0", "id": "A2VDJ0", "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/A2VDJ0", "id": "A2VDJ0", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "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/A2VDJ0", "id": "A2VDJ0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "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/A2VDJ0", "id": "A2VDJ0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "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/A2VDJ0", "id": "A2VDJ0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" } ], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing", "id": "A2VDJ0", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 709, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing", "id": "A2VDJ0", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 846, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 239, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 225, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 708, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 809, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 709, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing", "id": "A2VDJ0", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 343, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 343, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing", "id": "A2VDJ0", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 522, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing", "id": "A2VDJ0", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 439, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 439, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing", "id": "A2VDJ0", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 593, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "position": 593, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Ser", "position": "1122", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "" }, { "residue": "Ser", "position": "1122", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" } ], "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73" } ], "mass": { "monoisotopic_mass": 179339.0, "chemical_mass": 179339.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "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=ENSG00000121210", "id": "ENSG00000121210", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "name": "TMEM131L", "locus": { "end_pos": 153636711, "start_pos": 153466346, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000121210", "id": "ENSG00000121210", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VDJ0", "type": "synonym", "resource": "RefSeq", "name": "transmembrane protein 131-like isoform 1 precursor" }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "type": "recommended", "resource": "UniProtKB", "name": "Transmembrane protein 131-like" } ] }