{ "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": "H0Y2M0_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly", "reported.uniprotkb_gly", "reported.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "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:0016020", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "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": 5, "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" } ] }, "publication": [ { "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/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/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", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VDJ0", "type": "synonym", "resource": "RefSeq", "name": "KIAA0922" }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "type": "synonym", "resource": "UniProtKB", "name": "KIAA0922" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VDJ0", "type": "synonym", "resource": "RefSeq", "name": "TMEM131L" }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0", "type": "recommended", "resource": "UniProtKB", "name": "TMEM131L" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2VDJ0#A2VDJ0-1", "isoform_ac": "A2VDJ0-1", "locus": { "end_pos": 153466398, "strand": "-", "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#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#A2VDJ0-5", "isoform_ac": "A2VDJ0-5", "locus": { "end_pos": 153466398, "strand": "-", "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#A2VDJ0-6", "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#F8WEQ2-1", "isoform_ac": "F8WEQ2-1", "locus": { "end_pos": 153466398, "strand": "-", "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|F8WEQ2_HUMAN Computationally mapped isoform of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=4 SV=1 CANONICAL=A2VDJ0-1", "length": 71, "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQLLGQTI" } }, { "url": "https://www.uniprot.org/uniprot/A2VDJ0#H0Y2M0-1", "isoform_ac": "H0Y2M0-1", "locus": { "end_pos": 153555896, "strand": "-", "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": "" } ], "reaction_participants": [], "function": [ { "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" } ] }, { "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.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" } ] } ], "orthologs": [ { "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": "Rat", "organism": "Rattus norvegicus", "gene_name": "Tmem131l", "tax_id": 10116 }, { "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", "gene_name": "Tmem131l", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "start_pos": 103, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "154471292", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "glycoeffect": [], "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": "null", "chr_id": "4", "ref_nt": "G", "chr_pos": "153604137A>", "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" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 1041, "keywords": [ "ebi", "germline" ], "end_pos": 1041, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS)." }, { "sequence_org": "I", "alt_nt": "null", "chr_id": "4", "ref_nt": "G", "chr_pos": "153604206T>", "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" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 1064, "keywords": [ "ebi", "germline" ], "end_pos": 1064, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTS)." }, { "sequence_org": "L", "start_pos": 1104, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "154525477", "disease": [ { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "id": "A2VDJ0", "database": "BioMuta" } ], "glycoeffect": [], "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. 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