{ "uniprot_canonical_ac": "A5PLK6-1", "ptm_annotation": [], "sequence": { "header": "sp|A5PLK6-1|RGSL_HUMAN Isoform 1 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 1076, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" }, "uniprot_id": "RGSL_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "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/A5PLK6", "id": "A5PLK6", "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/12801632", "type": "PubMed", "id": "12801632" } ], "title": "Identification of 9 novel transcripts and two RGSL genes within the hereditary prostate cancer region (HPC1) at 1q25.", "journal": "Gene", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Silva AP, Salim AC, Bulgarelli A, de Souza JE, Osorio E, Caballero OL, Iseli C, Stevenson BJ, Jongeneel CV, de Souza SJ, Simpson AJ, Camargo AA", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18521847", "type": "PubMed", "id": "18521847" } ], "title": "A fragile site within the HPC1 region at 1q25.3 affecting RGS16, RGSL1, and RGSL2 in human breast carcinomas.", "journal": "Genes, chromosomes & cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec E, Overgaard J, Hansen LL", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20574532", "type": "PubMed", "id": "20574532" } ], "title": "Intermediate phenotypes identify divergent pathways to Alzheimer's disease.", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Shulman JM, Chibnik LB, Aubin C, Schneider JA, Bennett DA, De Jager PL", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21135262", "type": "PubMed", "id": "21135262" } ], "title": "High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec E, Wiuf C, Overgaard J, Hansen LL", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23248035", "type": "PubMed", "id": "23248035" } ], "title": "Chromosome 1q25.3 copy number alterations in primary breast cancers detected by multiplex ligation-dependent probe amplification and allelic imbalance assays and its comparison with fluorescent in situ hybridization assays.", "journal": "Cellular oncology (Dordrecht)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec E, Overgaard J, Kjeldsen E, Hansen LL", "date": "2013" } ], "uniprot_ac": "A5PLK6", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A5PLK6", "type": "synonym", "resource": "RefSeq", "name": "RGSL1" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6", "type": "recommended", "resource": "UniProtKB", "name": "RGSL1" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6", "type": "synonym", "resource": "UniProtKB", "name": "RGSL2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5PLK6", "type": "synonym", "resource": "RefSeq", "name": "RGSL; RGSL2" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6", "type": "synonym", "resource": "UniProtKB", "name": "RGSL" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RQD8-1", "isoform_ac": "A0A0U1RQD8-1", "locus": { "end_pos": 182473643, "strand": "-", "start_pos": 182473885, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634758", "id": "ENST00000634758", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000488942", "id": "ENSP00000488942", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RQD8-1|A0A0U1RQD8_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 81, "sequence": "MQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRA3-1", "isoform_ac": "A0A0U1RRA3-1", "locus": { "end_pos": 182450166, "strand": "-", "start_pos": 182458347, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000635407", "id": "ENST00000635407", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489421", "id": "ENSP00000489421", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRA3-1|A0A0U1RRA3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 46, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPLCFAGFWSDTILYC" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRF3-1", "isoform_ac": "A0A0U1RRF3-1", "locus": { "end_pos": 182471287, "strand": "-", "start_pos": 182471379, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634626", "id": "ENST00000634626", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489498", "id": "ENSP00000489498", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRF3-1|A0A0U1RRF3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 31, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRF6-1", "isoform_ac": "A0A0U1RRF6-1", "locus": { "end_pos": 182472452, "strand": "-", "start_pos": 182473966, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634679", "id": "ENST00000634679", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489502", "id": "ENSP00000489502", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRF6-1|A0A0U1RRF6_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 166, "sequence": "MDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQ" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRG0-1", "isoform_ac": "A0A0U1RRG0-1", "locus": { "end_pos": 182553470, "strand": "-", "start_pos": 182560310, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634801", "id": "ENST00000634801", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489508", "id": "ENSP00000489508", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRG0-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 57, "sequence": "XRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGNLIQPIQTKG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRN0-1", "isoform_ac": "A0A0U1RRN0-1", "locus": { "end_pos": 182471287, "strand": "-", "start_pos": 182472406, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634723", "id": "ENST00000634723", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489611", "id": "ENSP00000489611", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRN0-1|A0A0U1RRN0_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=2 CANONICAL=A5PLK6-1", "length": 37, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEEL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A3B3ISC9-1", "isoform_ac": "A0A3B3ISC9-1", "locus": { "end_pos": 182488285, "strand": "-", "start_pos": 182530361, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000648414", "id": "ENST00000648414", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000497245", "id": "ENSP00000497245", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A3B3ISC9-1|A0A3B3ISC9_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=1 SV=1 CANONICAL=A5PLK6-1", "length": 270, "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-1", "isoform_ac": "A5PLK6-1", "locus": { "end_pos": 182450166, "strand": "-", "start_pos": 182556054, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000294854", "id": "ENST00000294854", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457748", "id": "ENSP00000457748", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PLK6-1|RGSL_HUMAN Isoform 1 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 1076, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-2", "isoform_ac": "A5PLK6-2", "locus": {}, "sequence": { "header": "sp|A5PLK6-2|RGSL_HUMAN Isoform 2 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 599, "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-3", "isoform_ac": "A5PLK6-3", "locus": {}, "sequence": { "header": "sp|A5PLK6-3|RGSL_HUMAN Isoform 3 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 500, "sequence": "MSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-4", "isoform_ac": "A5PLK6-4", "locus": {}, "sequence": { "header": "sp|A5PLK6-4|RGSL_HUMAN Isoform 4 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 402, "sequence": "MSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKR" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-5", "isoform_ac": "A5PLK6-5", "locus": {}, "sequence": { "header": "sp|A5PLK6-5|RGSL_HUMAN Isoform 5 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 472, "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVLFLEGNPLLLTV" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-6", "isoform_ac": "A5PLK6-6", "locus": {}, "sequence": { "header": "sp|A5PLK6-6|RGSL_HUMAN Isoform 6 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 539, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGAKMMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTVGRTLG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNQ0-1", "isoform_ac": "H3BNQ0-1", "locus": { "end_pos": 182474522, "strand": "-", "start_pos": 182493024, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000415960", "id": "ENST00000415960", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454954", "id": "ENSP00000454954", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNQ0-1|H3BNQ0_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=2 CANONICAL=A5PLK6-1", "length": 29, "sequence": "AQKEICKMLSPWYDEFLDEEDYWFLLFTT" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNR3-1", "isoform_ac": "H3BNR3-1", "locus": { "end_pos": 182471287, "strand": "-", "start_pos": 182472487, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000437548", "id": "ENST00000437548", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454969", "id": "ENSP00000454969", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNR3-1|H3BNR3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 64, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNS3-1", "isoform_ac": "H3BNS3-1", "locus": { "end_pos": 182471287, "strand": "-", "start_pos": 182471373, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000447374", "id": "ENST00000447374", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454981", "id": "ENSP00000454981", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNS3-1|H3BNS3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=8 CANONICAL=A5PLK6-1", "length": 29, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BRN5-1", "isoform_ac": "H3BRN5-1", "locus": { "end_pos": 182450166, "strand": "-", "start_pos": 182488312, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422241", "id": "ENST00000422241", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000456332", "id": "ENSP00000456332", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BRN5-1|H3BRN5_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 154, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGEARVSLLKSNWWWCWRDSQEDDEIGSTRNLFPHLDNNCTGRICMICSVPGMMSF" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BU64-1", "isoform_ac": "H3BU64-1", "locus": { "end_pos": 182450166, "strand": "-", "start_pos": 182551138, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000443996", "id": "ENST00000443996", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457491", "id": "ENSP00000457491", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BU64-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 984, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGAKMMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVLFLEGNPLLLTV" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BVE8-1", "isoform_ac": "H3BVE8-1", "locus": { "end_pos": 182450166, "strand": "-", "start_pos": 182488301, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000416676", "id": "ENST00000416676", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000458086", "id": "ENSP00000458086", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BVE8-1|H3BVE8_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1", "length": 160, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNINAQSLV" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "resource": "KEGG Pathway", "id": "hsa:353299", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "description": "G alpha (q) signalling events", "resource": "Reactome", "id": "R-HSA-416476", "name": "G alpha (q) signalling events" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "description": "G alpha (i) signalling events", "resource": "Reactome", "id": "R-HSA-418594", "name": "G alpha (i) signalling events" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "description": "G alpha (z) signalling events", "resource": "Reactome", "id": "R-HSA-418597", "name": "G alpha (z) signalling events" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "A detailed mapping of the breakpoints revealed intragenic microdeletions affecting the coding regions of RGSL2, RGSL1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "Data indicate that multiplex ligation-dependent probe amplification (MLPA) probes (Fig. 2) corresponding to the RGSL2, RGSL1 and RGS16 genes showed 64.5 % tumour samples with copy number gains and 5 % tumour samples with copy number losses.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "Missense mutations in RGSL1 gene is associated with breast cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A0A5F8MPV0-1", "protein_name": "Regulator of G-protein-signaling-like 1", "sequence": { "length": 1108, "sequence": "MSNADIICSTNLIILLEDETFADFFNTFLSLPVFGQTPFYNVEKSQWSLWPEVPYDLIAKYKGLLTWLEKYRLPFFCKTNLCFYYILSQELVSFLKSPEGAKMMRWNMADQWLLQKCIAGVRGMWRFCSYLKGSAGEELLDFWILAEKILSIDETDKYLKDYYLSLLLVLKATHLQEGSRVVTLCNMDIKSLLNLSIWHPNQSTTRREILSHMQKVALFKIQSYWLPNFYTHAKMTMANEEACHGLMQEYETRLYSVCCAHAGGLPLNMSIKKSRHSQKKYSSKKAKKKIWHLNNPILWPLETDAKPEVPTKPQEELSLPERVVLQKTSLGEDSSKETIIHSLCKDLQNAKKPIVKKKSKIQLHMEGFLETAFTNHLRSSTPIINHAAPLVVKKSLKRSLSFGYTHWALCADACAGSPFRFHLKKMNLKVEVQLLDLWQDLQHFISVLMNNRQNGNALFRHMLGNRICELYLNEQIGPPLPLKPQTLQGLKKLLPSGEVNPWIPKAQREICKVLSPWYDEFLMEEDYWFLIFTTQTRFAKARWHKRETISKEEHILLYKRLQESLVLSQALASMQEIDSMQWQKVATENLRQGGSLQVELTTPVFLQDISKMSFKDLSFKNPKLAIEKMSEDYKIYCEKVPPTAFTVEIIRQPKYSYSQRKTSFVKKSVVRKPSMRPRNLTEVLLNNAHLEYFKEFLKDRKSESPLQFLIAVQKIMMETNEKTYKTSLENITKTYLHGKVPAEEILQCDAPFIKEIANVRHITTTTLLMLQGYVMKSVEEKWFKEYQDLFPPRSVEFEFVEAQAVPRKPSKSTTHLHDSQKRGWIKMIAFIKSFCNYRRFIADANNRQELADFIYLEMFNNKENFSTSPATSARHTPVNLSARNAEQENGDTVLVKRRIFGHRIITINFAVNDMYLFSEMERFNDLVSSAHMLQINRAYNENDIILMRSKLNIIVKLYLVSDLPPKLKVNISESQKDIIISAITEGHLDRTIFHGAIMSIFPVIMYFWKRFCNWKATRSYVEYLGKKFEDGRNPPKSVYKYPPWSGGEHTVLRFSLLRGVEWFRPQHPRDAVPSSLQPYQKYPTTKKRRSNQAKAKADMDGPLTLSQY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/129962", "id": "129962", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Rgsl1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.0%); num. of cancers (3).", "sequence_org": "I", "start_pos": 683, "alt_nt": "G", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182496829", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 683, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%). In dbSNP: rs557155006.", "sequence_org": "V", "start_pos": 1064, "alt_nt": "T", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182523821", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "F", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1064, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (1). In dbSNP: rs201581081.", "sequence_org": "V", "start_pos": 222, "alt_nt": "A", "chr_id": "1", "subjects_positive": "2", "chr_pos": "182442910", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "I", "subjects_tested": "1144", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 222, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "W", "start_pos": 256, "alt_nt": "C", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182443014", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "C", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 256, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "E", "start_pos": 286, "alt_nt": "T", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182443102", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "*", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 286, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "G", "start_pos": 420, "alt_nt": "T", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182443504", "disease": [ { "disease_id": "DOID:2394", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant Ovarian tumor", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovarian neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovary neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "primary ovarian cancer", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of ovary", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "tumor of the Ovary", "id": "DOID:2394" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, epithelial", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, NOS", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "primary ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian malignant tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumour of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://www.omim.org/entry/167000", "resource": "MIM", "description": "Ovarian cancer", "name": "Ovarian cancer", "id": "MIM:167000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the ovary.", "name": "ovarian cancer", "id": "DOID:2394" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "W", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 420, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (4.0%).", "sequence_org": "N", "start_pos": 501, "alt_nt": "A", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182458123", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "4.0", "sequence_mut": "K", "subjects_tested": "25", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 501, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "M", "start_pos": 641, "alt_nt": "C", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182491236", "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/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 641, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "V", "start_pos": 763, "alt_nt": "G", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182499969", "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/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "G", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 763, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "sequence_org": "Q", "start_pos": 788, "alt_nt": "A", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182500043", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "K", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 788, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "G", "start_pos": 8, "alt_nt": "A", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182423102", "disease": [ { "disease_id": "DOID:2394", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant Ovarian tumor", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovarian neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovary neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "primary ovarian cancer", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of ovary", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "tumor of the Ovary", "id": "DOID:2394" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, epithelial", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, NOS", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "primary ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian malignant tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumour of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://www.omim.org/entry/167000", "resource": "MIM", "description": "Ovarian cancer", "name": "Ovarian cancer", "id": "MIM:167000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the ovary.", "name": "ovarian cancer", "id": "DOID:2394" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "D", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 8, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "sequence_org": "I", "start_pos": 965, "alt_nt": "G", "chr_id": "1", "subjects_positive": "1", "chr_pos": "182517919", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "V", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 965, "minor_allelic_frequency": "", "ref_nt": "A" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "ac": "NP_001131141.1", "name": "regulator of G-protein signaling protein-like isoform 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 1, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 1045, "annotation": "n_glycosylation_sequon", "start_pos": 1043 }, { "end_pos": 161, "annotation": "n_glycosylation_sequon", "start_pos": 159 }, { "end_pos": 168, "annotation": "n_glycosylation_sequon", "start_pos": 166 }, { "end_pos": 235, "annotation": "n_glycosylation_sequon", "start_pos": 233 }, { "end_pos": 352, "annotation": "n_glycosylation_sequon", "start_pos": 350 }, { "end_pos": 647, "annotation": "n_glycosylation_sequon", "start_pos": 645 }, { "end_pos": 834, "annotation": "n_glycosylation_sequon", "start_pos": 832 }, { "end_pos": 840, "annotation": "n_glycosylation_sequon", "start_pos": 838 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1", "id": "RGSL1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/353299", "id": "353299", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18636", "id": "18636", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5PLK6*", "id": "A5PLK6", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016137", "id": "IPR016137", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036305", "id": "IPR036305", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "id": "hsa:353299", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/611012", "id": "611012", "database": "MIM" }, { "url": "http://www.omim.org/entry/611013", "id": "611013", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A5PLK6", "id": "NX_A5PLK6", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/SVCYTHV/", "id": "SVCYTHV", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=204702at2759", "id": "204702at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00615", "id": "PF00615", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A5PLK6", "id": "A5PLK6", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A5PLK6", "id": "PR_A5PLK6", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141", "id": "NP_001131141", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011507798", "id": "XP_011507798", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011507798.1", "id": "XP_011507798.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RQD8", "id": "A0A0U1RQD8", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RQD8-1", "id": "A0A0U1RQD8-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRA3", "id": "A0A0U1RRA3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRA3-1", "id": "A0A0U1RRA3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRF3", "id": "A0A0U1RRF3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRF3-1", "id": "A0A0U1RRF3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRF6", "id": "A0A0U1RRF6", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRF6-1", "id": "A0A0U1RRF6-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRG0", "id": "A0A0U1RRG0", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRG0-1", "id": "A0A0U1RRG0-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRN0", "id": "A0A0U1RRN0", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A0U1RRN0-1", "id": "A0A0U1RRN0-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A3B3ISC9", "id": "A0A3B3ISC9", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0A3B3ISC9-1", "id": "A0A3B3ISC9-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6-1", "id": "A5PLK6-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6-2", "id": "A5PLK6-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6-3", "id": "A5PLK6-3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6-4", "id": "A5PLK6-4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6-5", "id": "A5PLK6-5", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6-6", "id": "A5PLK6-6", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BNQ0", "id": "H3BNQ0", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BNQ0-1", "id": "H3BNQ0-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BNR3", "id": "H3BNR3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BNR3-1", "id": "H3BNR3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BNS3", "id": "H3BNS3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BNS3-1", "id": "H3BNS3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BRN5", "id": "H3BRN5", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BRN5-1", "id": "H3BRN5-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BU64", "id": "H3BU64", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BU64-1", "id": "H3BU64-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BVE8", "id": "H3BVE8", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BVE8-1", "id": "H3BVE8-1", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "Yes" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3907", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "", "name": "Epidermoid cell carcinoma of the lung", "id": "DOID:3907" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "name": "lung squamous cell carcinoma", "id": "DOID:3907" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3910", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "nonsmall cell adenocarcinoma", "id": "DOID:3910" }, { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "bronchogenic lung adenocarcinoma", "id": "DOID:3910" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "A lung cancer that derives_from epithelial cells of glandular origin.", "name": "lung adenocarcinoma", "id": "DOID:3910" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 125688.0, "chemical_mass": 125688.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "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=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "name": "RGSL1", "locus": { "end_pos": 182560599, "strand": "+", "start_pos": 182409192, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000121446", "id": "ENSG00000121446", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Regulator of G-protein signaling protein-like" }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Regulator of G-protein-signaling protein-like" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5PLK6", "type": "synonym", "resource": "RefSeq", "name": "regulator of G-protein signaling like 2; regulator of G-protein signaling protein-like" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5PLK6", "type": "synonym", "resource": "RefSeq", "name": "regulator of G-protein signaling protein-like isoform 1" } ] }