{ "uniprot_canonical_ac": "A0JNW5-1", "sequence": { "header": "sp|A0JNW5-1|UH1BL_HUMAN Isoform 1 of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=2 CANONICAL=A0JNW5-1", "length": 1464, "sequence": "MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGELKNLELDEEVLQNMLDLPTWLAINKVFCNKASIRIPWTKLKTHPICLSLDKVIMEMSTCEEPRSPNGPSPIATASGQSEYGFAEKVVEGISVSVNSIVIRIGAKAFNASFELSQLRIYSVNAHWEHGDLRFTRIQDPQRGEVLTFKEINWQMIRIEADATQSSHLEIMCAPVRLITNQSKIRVTLKRRLKDCNVIATKLVLILDDLLWVLTDSQLKAMVQYAKSLSEAIEKSTEQRKSMAPEPTQSSTVVASAQQVKTTQTSNAPDVNDAIVKLFNDFDVKETSHHLVISHLDLHICDDIHAKEKESNRRITGGAMQLSFTQLTIDYYPYHKAGDSCNHWMYFSDATKTKNGWANELLHEFECNVEMLKQAVKDHNVGSPPKSPTHASPQHTQTEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMICCNKKSLYLPQEMSAVYIEFTEYYYPDGKDFPIPSPNLYSQLNALQFTVDERSILWLNQFLLDLKQSLNQFMAVYKLNDNSKSDEHVDVRVDGLMLKFVIPSEVKSECHQDQPRAISIQSSEMIATNTRHCPNCRHSDLEALFQDFKDCDFFSKTYTSFPKSCDNFNLLHPIFQRHAHEQDTKMHEIYKGNITPQLNKNTLKTSAATDVWAVYFSQFWIDYEGMKSGKGRPISFVDSFPLSIWICQPTRYAESQKEPQTCNQVSLNTSQSESSDLAGRLKRKKLLKEYYSTESEPLTNGGQKPSSSDTFFRFSPSSSEADIHLLVHVHKHVSMQINHYQYLLLLFLHESLILLSENLRKDVEAVTGSPASQTSICIGILLRSAELALLLHPVDQANTLKSPVSESVSPVVPDYLPTENGDFLSSKRKQISRDINRIRSVTVNHMSDNRSMSVDLSHIPLKDPLLFKSASDTNLQKGISFMDYLSDKHLGKISEDESSGLVYKSGSGEIGSETSDKKDSFYTDSSSILNYREDSNILSFDSDGNQNILSSTLTSKGNETIESIFKAEDLLPEAASLSENLDISKEETPPVRTLKSQSSLSGKPKERCPPNLAPLCVSYKNMKRSSSQMSLDTISLDSMILEEQLLESDGSDSHMFLEKGNKKNSTTNYRGTAESVNAGANLQNYGETSPDAISTNSEGAQENHDDLMSVVVFKITGVNGEIDIRGEDTEICLQVNQVTPDQLGNISLRHYLCNRPVGSDQKAVIHSKSSPEISLRFESGPGAVIHSLLAEKNGFLQCHIENFSTEFLTSSLMNIQHFLEDETVATVMPMKIQVSNTKINLKDDSPRSSTVSLEPAPVTVHIDHLVVERSDDGSFHIRDSHMLNTGNDLKENVKSDSVLLTSGKYDLKKQRSVTQATQTSPGVPWPSQSANFPEFSFDFTREQLMEENESLKQELAKAKMALAEAHLEKDALLHHIKKMTVE" }, "uniprot_id": "UH1BL_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "UHRF1-binding protein 1-like isoform b", "UHRF1 (ICBP90) binding protein 1-like; syntaxin 6Habc-interacting protein of 164 kDa; syntaxin-6 Habc-interacting protein of 164 kDa" ], "uniprotkb": [ "UHRF1-binding protein 1-like", "Syntaxin-6 Habc-interacting protein of 164 kDa" ] }, "gene": { "refseq": [ "UHRF1BP1L", "SHIP164" ], "uniprotkb": [ "UHRF1BP1L", "KIAA0701", "SHIP164" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "UHRF1-binding protein 1-like; Syntaxin-6 Habc-interacting protein of 164 kDa." }, "publication": [ { "title": "Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23422819", "journal": "Investigative ophthalmology & visual science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "id": "NP_001006948.1", "database": "RefSeq" } ], "authors": "Hawthorne F, Feng S, Metlapally R, Li YJ, Tran-Viet KN, Guggenheim JA, Malecaze F, Calvas P, Rosenberg T, Mackey DA, Venturini C, Hysi PG, Hammond CJ, Young TL", "date": "2013", "pmid": "23422819" }, { "title": "A novel syntaxin 6-interacting protein, SHIP164, regulates syntaxin 6-dependent sorting from early endosomes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20163565", "journal": "Traffic", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "id": "NP_001006948.1", "database": "RefSeq" } ], "authors": "Razi M., Tooze S.A., Stenner F., Morvan J., Otto G.P.", "date": "2010", "pmid": "20163565" }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "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", "pmid": "11230166" } ], "glycosylation": [], "mutation": [ { "start_pos": 345, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%). In dbSNP: rs1430129573.", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "L", "subjects_tested": "66", "end_pos": 345, "type": "Point mutation" }, { "start_pos": 1139, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "W", "subjects_tested": "50", "end_pos": 1139, "type": "Point mutation" }, { "start_pos": 741, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs746684956.", "sequence_org": "P", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "L", "subjects_tested": "456", "end_pos": 741, "type": "Point mutation" }, { "start_pos": 214, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 214, "type": "Point mutation" }, { "start_pos": 252, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 252, "type": "Point mutation" }, { "start_pos": 1158, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "V", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "L", "subjects_tested": "191", "end_pos": 1158, "type": "Point mutation" }, { "start_pos": 1203, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "E", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "Q", "subjects_tested": "103", "end_pos": 1203, "type": "Point mutation" }, { "start_pos": 741, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs746684956.", "sequence_org": "P", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "L", "subjects_tested": "980", "end_pos": 741, "type": "Point mutation" }, { "start_pos": 741, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs746684956.", "sequence_org": "P", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "L", "subjects_tested": "558", "end_pos": 741, "type": "Point mutation" }, { "start_pos": 910, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "I", "subjects_tested": "94", "end_pos": 910, "type": "Point mutation" }, { "start_pos": 1266, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "V", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "L", "subjects_tested": "66", "end_pos": 1266, "type": "Point mutation" }, { "start_pos": 312, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "D", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "G", "subjects_tested": "66", "end_pos": 312, "type": "Point mutation" }, { "start_pos": 934, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%). In dbSNP: rs773515409.", "sequence_org": "M", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "V", "subjects_tested": "93", "end_pos": 934, "type": "Point mutation" }, { "start_pos": 227, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%). In dbSNP: rs12823733.", "sequence_org": "C", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "S", "subjects_tested": "93", "end_pos": 227, "type": "Point mutation" }, { "start_pos": 155, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0JNW5", "id": "A0JNW5", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "V", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "I", "subjects_tested": "66", "end_pos": 155, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5#A0JNW5-2", "isoform_ac": "A0JNW5-2", "locus": { "end_pos": 100070153, "start_pos": 100142635, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356828", "id": "ENST00000356828", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000349285", "id": "ENSP00000349285", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0JNW5-2|UH1BL_HUMAN Isoform 2 of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=2 CANONICAL=A0JNW5-1", "length": 522, "sequence": "MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGELKNLELDEEVLQNMLDLPTWLAINKVFCNKASIRIPWTKLKTHPICLSLDKVIMEMSTCEEPRSPNGPSPIATASGQSEYGFAEKVVEGISVSVNSIVIRIGAKAFNASFELSQLRIYSVNAHWEHGDLRFTRIQDPQRGEVLTFKEINWQMIRIEADATQSSHLEIMCAPVRLITNQSKIRVTLKRRLKDCNVIATKLVLILDDLLWVLTDSQLKAMVQYAKSLSEAIEKSTEQRKSMAPEPTQSSTVVASAQQVKTTQTSNAPDVNDAIVKLFNDFDVKETSHHLVISHLDLHICDDIHAKEKESNRRITGGAMQLSFTQLTIDYYPYHKAGDSCNHWMYFSDATKTKNGWANELLHEFECNVEMLKQAVKDHNVGSPPKSPTHASPQHTQTEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMICCNKKSLYLPQEMSAVYIEFTEYYYPDGKDFPTAFLSR" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#F8W665-1", "isoform_ac": "F8W665-1", "locus": { "end_pos": 100072781, "start_pos": 100086329, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000551973", "id": "ENST00000551973", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000448226", "id": "ENSP00000448226", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8W665-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 130, "sequence": "MQLSFTQLTIDYYPYHKAGDSCNHWMYFSDATKTKNGWANELLHEFECNVEMLKQAVKDHNVGSPPKSPTHASPQHTQTEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSP" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#A0JNW5-1", "isoform_ac": "A0JNW5-1", "locus": { "end_pos": 100037639, "start_pos": 100142635, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000279907", "id": "ENST00000279907", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000279907", "id": "ENSP00000279907", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0JNW5-1|UH1BL_HUMAN Isoform 1 of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=2 CANONICAL=A0JNW5-1", "length": 1464, "sequence": "MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGELKNLELDEEVLQNMLDLPTWLAINKVFCNKASIRIPWTKLKTHPICLSLDKVIMEMSTCEEPRSPNGPSPIATASGQSEYGFAEKVVEGISVSVNSIVIRIGAKAFNASFELSQLRIYSVNAHWEHGDLRFTRIQDPQRGEVLTFKEINWQMIRIEADATQSSHLEIMCAPVRLITNQSKIRVTLKRRLKDCNVIATKLVLILDDLLWVLTDSQLKAMVQYAKSLSEAIEKSTEQRKSMAPEPTQSSTVVASAQQVKTTQTSNAPDVNDAIVKLFNDFDVKETSHHLVISHLDLHICDDIHAKEKESNRRITGGAMQLSFTQLTIDYYPYHKAGDSCNHWMYFSDATKTKNGWANELLHEFECNVEMLKQAVKDHNVGSPPKSPTHASPQHTQTEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMICCNKKSLYLPQEMSAVYIEFTEYYYPDGKDFPIPSPNLYSQLNALQFTVDERSILWLNQFLLDLKQSLNQFMAVYKLNDNSKSDEHVDVRVDGLMLKFVIPSEVKSECHQDQPRAISIQSSEMIATNTRHCPNCRHSDLEALFQDFKDCDFFSKTYTSFPKSCDNFNLLHPIFQRHAHEQDTKMHEIYKGNITPQLNKNTLKTSAATDVWAVYFSQFWIDYEGMKSGKGRPISFVDSFPLSIWICQPTRYAESQKEPQTCNQVSLNTSQSESSDLAGRLKRKKLLKEYYSTESEPLTNGGQKPSSSDTFFRFSPSSSEADIHLLVHVHKHVSMQINHYQYLLLLFLHESLILLSENLRKDVEAVTGSPASQTSICIGILLRSAELALLLHPVDQANTLKSPVSESVSPVVPDYLPTENGDFLSSKRKQISRDINRIRSVTVNHMSDNRSMSVDLSHIPLKDPLLFKSASDTNLQKGISFMDYLSDKHLGKISEDESSGLVYKSGSGEIGSETSDKKDSFYTDSSSILNYREDSNILSFDSDGNQNILSSTLTSKGNETIESIFKAEDLLPEAASLSENLDISKEETPPVRTLKSQSSLSGKPKERCPPNLAPLCVSYKNMKRSSSQMSLDTISLDSMILEEQLLESDGSDSHMFLEKGNKKNSTTNYRGTAESVNAGANLQNYGETSPDAISTNSEGAQENHDDLMSVVVFKITGVNGEIDIRGEDTEICLQVNQVTPDQLGNISLRHYLCNRPVGSDQKAVIHSKSSPEISLRFESGPGAVIHSLLAEKNGFLQCHIENFSTEFLTSSLMNIQHFLEDETVATVMPMKIQVSNTKINLKDDSPRSSTVSLEPAPVTVHIDHLVVERSDDGSFHIRDSHMLNTGNDLKENVKSDSVLLTSGKYDLKKQRSVTQATQTSPGVPWPSQSANFPEFSFDFTREQLMEENESLKQELAKAKMALAEAHLEKDALLHHIKKMTVE" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#F8VW65-1", "isoform_ac": "F8VW65-1", "locus": { "end_pos": 100072679, "start_pos": 100086329, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000548045", "id": "ENST00000548045", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000449112", "id": "ENSP00000449112", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8VW65-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 103, "sequence": "MQLSFTQLTIDYYPYHKAEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMICCNKKSLYLPQEMSAVYIEFTEYYYPDGKD" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#H0YHT7-1", "isoform_ac": "H0YHT7-1", "locus": { "end_pos": 100028556, "start_pos": 100048196, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000548712", "id": "ENST00000548712", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000447809", "id": "ENSP00000447809", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YHT7-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 204, "sequence": "XSDQKAVIHSKSSPEISLRFESGPGAVIHSLLAEKNGFLQCHIENFSTEFLTSSLMNIQHFLEDETVATVMPMKIQVSNTKINLKDDSPRSSTVSLEPAPVTVHIDHLVVERSDDGSFHIRDSHMLNTGNDLKENVKSDSVLLTSGKYDLKKQRSVTQATQTSPGVPWPSQSANFPEFSFDFTREQLNKRFFNQDFGTTKMEEI" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#F8W1I2-1", "isoform_ac": "F8W1I2-1", "locus": { "end_pos": 100072787, "start_pos": 100086329, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000550544", "id": "ENST00000550544", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000447043", "id": "ENSP00000447043", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8W1I2-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 67, "sequence": "MQLSFTQLTIDYYPYHKAEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRS" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#F8VRN3-1", "isoform_ac": "F8VRN3-1", "locus": { "end_pos": 100128635, "start_pos": 100142635, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000547428", "id": "ENST00000547428", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000448420", "id": "ENSP00000448420", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8VRN3-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 45, "sequence": "MAGIIKKQILKHLSSVPCWLWWRLVCCELHNHPNEYQRSLRNPGN" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#A0A0C4DGH6-1", "isoform_ac": "A0A0C4DGH6-1", "locus": { "end_pos": 100037639, "start_pos": 100086329, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000545232", "id": "ENST00000545232", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000444824", "id": "ENSP00000444824", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0C4DGH6-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 1114, "sequence": "MQLSFTQLTIDYYPYHKAGDSCNHWMYFSDATKTKNGWANELLHEFECNVEMLKQAVKDHNVGSPPKSPTHASPQHTQTEKDYPLKGTCRTPSVLSQQSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMICCNKKSLYLPQEMSAVYIEFTEYYYPDGKDFPIPSPNLYSQLNALQFTVDERSILWLNQFLLDLKQSLNQFMAVYKLNDNSKSDEHVDVRVDGLMLKFVIPSEVKSECHQDQPRAISIQSSEMIATNTRHCPNCRHSDLEALFQDFKDCDFFSKTYTSFPKSCDNFNLLHPIFQRHAHEQDTKMHEIYKGNITPQLNKNTLKTSAATDVWAVYFSQFWIDYEGMKSGKGRPISFVDSFPLSIWICQPTRYAESQKEPQTCNQVSLNTSQSESSDLAGRLKRKKLLKEYYSTESEPLTNGGQKPSSSDTFFRFSPSSSEADIHLLVHVHKHVSMQINHYQYLLLLFLHESLILLSENLRKDVEAVTGSPASQTSICIGILLRSAELALLLHPVDQANTLKSPVSESVSPVVPDYLPTENGDFLSSKRKQISRDINRIRSVTVNHMSDNRSMSVDLSHIPLKDPLLFKSASDTNLQKGISFMDYLSDKHLGKISEDESSGLVYKSGSGEIGSETSDKKDSFYTDSSSILNYREDSNILSFDSDGNQNILSSTLTSKGNETIESIFKAEDLLPEAASLSENLDISKEETPPVRTLKSQSSLSGKPKERCPPNLAPLCVSYKNMKRSSSQMSLDTISLDSMILEEQLLESDGSDSHMFLEKGNKKNSTTNYRGTAESVNAGANLQNYGETSPDAISTNSEGAQENHDDLMSVVVFKITGVNGEIDIRGEDTEICLQVNQVTPDQLGNISLRHYLCNRPVGSDQKAVIHSKSSPEISLRFESGPGAVIHSLLAEKNGFLQCHIENFSTEFLTSSLMNIQHFLEDETVATVMPMKIQVSNTKINLKDDSPRSSTVSLEPAPVTVHIDHLVVERSDDGSFHIRDSHMLNTGNDLKENVKSDSVLLTSGKYDLKKQRSVTQATQTSPGVPWPSQSANFPEFSFDFTREQLMEENESLKQELAKAKMALAEAHLEKDALLHHIKKMTVE" } }, { "url": "https://www.uniprot.org/uniprot/A0JNW5#F8VWX2-1", "isoform_ac": "F8VWX2-1", "locus": { "end_pos": 100084534, "start_pos": 100086329, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000551980", "id": "ENST00000551980", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000449189", "id": "ENSP00000449189", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8VWX2-1|UH1BL_HUMAN Computationally mapped isoform of UHRF1-binding protein 1-like OS=Homo sapiens OX=9606 GN=UHRF1BP1L PE=1 SV=1 CANONICAL=A0JNW5-1", "length": 60, "sequence": "MQLSFTQLTIDYYPYHKAGDSCNHWMYFSDATKTKNGWANELLHEFECNVEMLKQAVKDH" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:23074", "resource": "KEGG Pathway", "id": "hsa:23074", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "annotation": "3 genes identified by association study and supported by ocular expression and/or replication, UHRF1BP1L, PTPRR, and PPFIA2, are novel candidates for myopic development within the MYP3 locus that should be further studied. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "id": "NP_001006948.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "annotation": "UHRF1BP1L was identified as an Syntaxin6 interacting protein (called SHIP164) which regulates sorting form coated early endosomes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "id": "NP_001006948.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A2RSJ4-1", "protein_name": "UHRF1-binding protein 1-like; Syntaxin-6 Habc-interacting protein of 164 kDa.", "sequence": { "length": 1457, "sequence": "MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGELKNLELDEEVLQNMLDLPTWLAISKVFCNKASIRIPWTKLKTQPICLSLDKVIMEMSTCEEPRAPNGPSPIATASGQSEYGFAEKVVEGITVSVNSIVIRIGAKAFNASFELSQLRIYSVNAQWEHGDLRFTRIQDPQRGEVLTFKEINWQMIRIEADATQSSHLEIMCAPVRLITNQSKIRVTLKRRLKDCNVIATKLVLILDDLLWVLTDSQLKAMVQYAKSLSEAIEKSTEQRKSMAPEPTQSSTVTSSAQHVKTPQAANAPDLSDAIVKLFNDFDVKETSHHLVISHLDLHICDDIHAKEKESNRRVSGGAMQLSFTQLTIDYYPYHKAGDSCSHWMYFSDATKTKNGWANELLHEFECNVEMLKQAMKDRNLGSPPKSPTHASPQHTQTEKDSTLKGTPKTPSVLPQPSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMISCNKKSLYLPQEMSAIYIEFTEYYYPDGKDFPIPSPNLYSQLNALQFTVDERSILWLNQFLLDLKQSLNQFMAVYKLNDSSKSDEHVDIRVDGLMLKFVIPSEVKAGCHQDQPHTVSIQSSEMIATNTRHCPNCRHSDLEALCQDFKECDFFSKTYTRFPKSCDSFNLLHPIFQRHAHEQDTKMHEVYKGNIIPKLNKNTLKTSAATDVWAVYFSQFWIDYEGMKSGKGRPVSFVDAFPLSIWICQPTRYAELQKEFQTCDQVTLNTSQSESSDLAGRMKRKKLLKEYYSTESEPLTNGGQRPSSDTFLRFSSSSSDADVHVLVRVHKHVSMQINHYQYLLLLFIHESLVLLSDTLRRDVEAVIGSPASQTSVCVGILLRSAELALLLHPVNPTSALRSPASESGSPLLPDFLPAENGGFLSSKRKQGGSGIHRIRNATLNHMSDNRSMSVDLSHAPLKDPLLFKSASDTNLQKGTSFLDYLSDKHLGKISEDESSGLSHKSGSGEMTSEGSHTKDVASTDSDSVLNYRDGSTRLSLDDDGNHNPPSNPVTGKGIDAIHSIFRAEDFLPEAASLSENPESSKEEAPPARAPKSQTSLSAKSKERCPPSPAPLSVSYKNMKRSASQVSLDTLSLDSMVLEEQAESDGSDSHVLLGKAMKRNSNTSCQSPAESVNTSANTQTCGEASPEAVSTNSEGTQENRDDLMSVVVFRITGVNGEIDIRGEDTEVCLQVNQVTPSQLGNVSLRHYLGNRPVGSDQKAIIHPKSSPEISLRFESGPGAVVHSLLAEKNGFLQCHIENFTTEFLTSSLLNIQHFLEDETVATVMPMKIQVSNTKINLKDDSPRGSTVSLQPSPVTVHIDRLVVERSDDGSFHIRDSHLFNTGTDFKDGASSDSVVRTRGMCDVRMHSSVTQATQTSPEVPLPSQSANFLDITREQLMEENECLRQRLAQAKMELAEAHSARDELLHQMKRMGL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/834541/", "id": "834541", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/12590", "id": "12590", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "M0R8V0-1", "protein_name": "UHRF1-binding protein 1-like.", "sequence": { "length": 1467, "sequence": "MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGELKNLELDEEVLQNMLDLPTWLAINKVFCNKASIRIPWTKLKTHPICLSLDKVVLEMSTCEEPRAPNGPSPIATASGQSEYGFAEKVVEGITVSVNSIVIRIGAKAFNASFELSQLRIYSVNAQWEHGDLRFTRIQDPQRGEVLTFKEINWQMIRIEADATQSSHLEIMCAPVRLITNQSKIRVTLKRRLKDCNVIATKLVLILDDLLWVLTDSQLKAMVQYAKSLSEAIEKSTEQRKSMAPEPAQSSTITSSAQHVKTPQAANAPDLGDAIVKLFNDFDVKETSHHLVISHLDLHICDDIHAKEKESSRRISGGAMQLSFTQLTVDYYPYHKAGDSCSHWMYFSDATKTKIGWANELLHEFECNVEMLTQAMKDHNLGSPPKSPTHASPQHTQTEKDSTLKGTPRTPSVSSQPSKAKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMISCNKKSLYLPQEMSAIYIEFTEYYYPDGKDFPIPSPNLYSQLNALQFTVDERSILWLNQFILDLKQSLNQFMAVYKLNDSSKSDEHVDIRVDGLMLKFVIPSEVKPGCHRDQPHTVSIQSSEMIATNTRHCPNCRHSDLEALFQDFKDIDFFSKTYTRFPKSCDSFNLLHPIFQRHAHEQDTKMHEVYKGNIIPKLNKNTLKPSAATDVWAVHFSQFWIDYEGMKSGKGRPVSFVDAFPLSVWICQPTRYAELQKEFQTCDQVTLNTSQSESSDLAGRMKRKKLLKEYYSTESESLTNGGQRPPSDAFLRFSSPSSDADVHVLVRVHKHVSMQINHYQYLLLLFIHESLVLLSDTLRKDVEAVTGSPATQTSVCVGVLLRSAELALLLHPVNHTSALRSPASESGSPLLPDYLPAENGGILSSKRKQGGSGVHRIRNATLSHMSDNRSMSVDLSHAPLKDPLLFKSASDTNLQKGTSFLDYLSDKHLGKISEDESSGLVYKSGAGEMASEVSHTKGVACTDSDSVSDYREDSATISLDNDANQITRSNAAARKGNETIRSIFKAEDFPPETASLSESLENSKEEAPTARALKSQPPLSVKSKEHCPPTPAPLSVSYKNMKRSASQISLDTVSLDSVGFEEQLESDGSDSHVLLGRAIKRNSSTSCQSPAESGNINANMQNCGEASPDAVSTTSEGTQELRDDLMSVVVFKIIGVSGEIDIRGEDTEVCLQVNQVTPSQLGNVSLRHYLSNRPIGSDQKAIIHPKSSPEISLRFESGPGAVVHSLLAEKNGFLQCHIENFTTEFLTSSLVNLQHFLEDDTVATAMPMKIQVSNTQINVTDDSPRGSTVSLQPSPVTVHIDHLVVERNDDGSFHIRDSQLFNTGTDFKDSASSNSEVRTRGTCDVRKQSSVTQATQTSPEVPLPSQSATFPEGSVDITREQLMEENECLRQELAQARMELAEAHSARDELLHQMKRLALGQLQRP" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/834541/", "id": "834541", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "ac": "NP_001006948.1", "name": "UHRF1-binding protein 1-like isoform b; UHRF1 (ICBP90) binding protein 1-like; syntaxin 6Habc-interacting protein of 164 kDa; syntaxin-6 Habc-interacting protein of 164 kDa.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "database": "UniProtKB" } ], "name": "protein homodimerization activity", "id": "GO:0042803" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062069", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "database": "UniProtKB" } ], "name": "GARP complex binding", "id": "GO:0062069" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "database": "UniProtKB" } ], "name": "early endosome", "id": "GO:0005769" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0JNW5", "id": "A0JNW5", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 2, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 21, "annotation": "n_glycosylation_sequon", "start_pos": 19 }, { "end_pos": 28, "annotation": "n_glycosylation_sequon", "start_pos": 26 }, { "end_pos": 144, "annotation": "n_glycosylation_sequon", "start_pos": 142 }, { "end_pos": 214, "annotation": "n_glycosylation_sequon", "start_pos": 212 }, { "end_pos": 677, "annotation": "n_glycosylation_sequon", "start_pos": 675 }, { "end_pos": 752, "annotation": "n_glycosylation_sequon", "start_pos": 750 }, { "end_pos": 933, "annotation": "n_glycosylation_sequon", "start_pos": 931 }, { "end_pos": 1042, "annotation": "n_glycosylation_sequon", "start_pos": 1040 }, { "end_pos": 1148, "annotation": "n_glycosylation_sequon", "start_pos": 1146 }, { "end_pos": 1229, "annotation": "n_glycosylation_sequon", "start_pos": 1227 }, { "end_pos": 1286, "annotation": "n_glycosylation_sequon", "start_pos": 1284 }, { "end_pos": 1432, "annotation": "n_glycosylation_sequon", "start_pos": 1430 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006948.1", "id": "NP_001006948.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29102", "id": "29102", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A0JNW5", "id": "A0JNW5", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A0JNW5", "id": "NX_A0JNW5", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=UHRF1BP1L", "id": "UHRF1BP1L", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:23074", "id": "hsa:23074", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111647", "id": "ENSG00000111647", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/TRYTESQ/", "id": "TRYTESQ", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026854", "id": "IPR026854", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026728", "id": "IPR026728", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF12624", "id": "PF12624", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22774", "id": "PTHR22774", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0JNW5", "id": "PR_A0JNW5", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0JNW5*", "id": "A0JNW5", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/23074", "id": "23074", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0JNW5", "id": "A0JNW5", "database": "BioXpress" } ] } ], "uniprot_ac": "A0JNW5", "disease": [], "mass": { "monoisotopic_mass": 164199.0, "chemical_mass": 164199.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:23074", "id": "hsa:23074", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:23074", "id": "hsa:23074", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:23074", "id": "hsa:23074", "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=hsa:23074", "id": "hsa:23074", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:23074", "id": "hsa:23074", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": 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