{ "uniprot_canonical_ac": "A1L390-1", "sequence": { "header": "sp|A1L390-1|PKHG3_HUMAN Isoform 1 of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 1219, "sequence": "MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIENIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRNWTHHIKRLILENHHATIPQKAKEAILEMDSYYPNRYRCSPERLKKAWSSQDEVSTNVRQGRRQSEPTKHLLRQLNEKARAAGMKGKGRRESESSRSSRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLDQASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDSLSCQLSPEVDISVGVATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKIKSYYENAEHHDAGFSVRRRESLSYIPKGLVRNSISRFNSLPRPDPEPVPPVGSKRQVGSRPTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSGGSPGKGPGQGQANGFDLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELVAPLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDGKSPTVPCLQEEAGEPLGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPSAVSQRTTSPGGRPSARSPLSPTETFSWPDVRELCSKYASRDEARRAGGGRPRGPPVNRSHSVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPDGGETLYVTADLTLEDNRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPSQQGRVRNLREKFQALNSVG" }, "uniprot_id": "PKHG3_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "pleckstrin homology domain-containing family G member 3", "pleckstrin homology domain containing, family G, member 3; PH domain-containing family G member 3; pleckstrin homology domain containing, family G (with RhoGef domain) member 3" ], "uniprotkb": [ "Pleckstrin homology domain-containing family G member 3", "PH domain-containing family G member 3" ] }, "gene": { "refseq": [ "PLEKHG3", "ARHGEF43", "KIAA0599" ], "uniprotkb": [ "PLEKHG3", "KIAA0599", "ARHGEF43" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L390", "id": "A1L390", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Pleckstrin homology domain-containing family G member 3; PH domain-containing family G member 3.", "short": "PH domain-containing family G member 3" }, "publication": [ { "title": "PLEKHG3 enhances polarized cell migration by activating actin filaments at the cell front.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27555588", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "id": "NP_001295076.1", "database": "RefSeq" } ], "authors": "Nguyen TT, Park WS, Park BO, Kim CY, Oh Y, Kim JM, Choi H, Kyung T, Kim CH, Lee G, Hahn KM, Meyer T, Heo WD", "date": "2016", "pmid": "27555588" }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L390/publications", "id": "A1L390", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Wang Y., Zhou J., Comb M.J., Guo A., Lee K.A., Aguiar M., Bedford M.T., Gu H., Jia X., Kornhauser J., Mulhern D., Ren J., Silva J.C., Vemulapalli V., Yang V.", "date": "2014", "pmid": "24129315" }, { "title": "A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21360829", "journal": "Autism research : official journal of the International Society for Autism Research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "id": "NP_001295076.1", "database": "RefSeq" } ], "authors": "Griswold AJ, Ma D, Sacharow SJ, Robinson JL, Jaworski JM, Wright HH, Abramson RK, Lybaek H, Oyen N, Cuccaro ML, Gilbert JR, Pericak-Vance MA", "date": "2011", "pmid": "21360829" } ], "glycosylation": [], "mutation": [ { "start_pos": 758, "subjects_positive": "30", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (2/5): patient freq. (2.0%); patient count (30/1514).", "sequence_org": "N", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "S", "subjects_tested": "1514", "end_pos": 758, "type": "Point mutation" }, { "start_pos": 974, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 974, "type": "Point mutation" }, { "start_pos": 709, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "L", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "V", "subjects_tested": "103", "end_pos": 709, "type": "Point mutation" }, { "start_pos": 295, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "P", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 295, "type": "Point mutation" }, { "start_pos": 489, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "A", "subjects_tested": "66", "end_pos": 489, "type": "Point mutation" }, { "start_pos": 1199, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "L", "subjects_tested": "66", "end_pos": 1199, "type": "Point mutation" }, { "start_pos": 1104, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "1.3", "annotation": "Filters passed (1/5): patient freq. (1.3%).", "sequence_org": "K", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "R", "subjects_tested": "78", "end_pos": 1104, "type": "Point mutation" }, { "start_pos": 148, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "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": "P", "subjects_tested": "50", "end_pos": 148, "type": "Point mutation" }, { "start_pos": 288, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "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": "V", "subjects_tested": "50", "end_pos": 288, "type": "Point mutation" }, { "start_pos": 619, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "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": 619, "type": "Point mutation" }, { "start_pos": 384, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "N", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 384, "type": "Point mutation" }, { "start_pos": 910, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "L", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "I", "subjects_tested": "66", "end_pos": 910, "type": "Point mutation" }, { "start_pos": 737, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L390", "id": "A1L390", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "R", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "S", "subjects_tested": "93", "end_pos": 737, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L390#A1L390-1", "isoform_ac": "A1L390-1", "locus": { "end_pos": 64727632, "start_pos": 64743700, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000247226", "id": "ENST00000247226", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000247226", "id": "ENSP00000247226", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L390-1|PKHG3_HUMAN Isoform 1 of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 1219, "sequence": "MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIENIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRNWTHHIKRLILENHHATIPQKAKEAILEMDSYYPNRYRCSPERLKKAWSSQDEVSTNVRQGRRQSEPTKHLLRQLNEKARAAGMKGKGRRESESSRSSRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLDQASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDSLSCQLSPEVDISVGVATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKIKSYYENAEHHDAGFSVRRRESLSYIPKGLVRNSISRFNSLPRPDPEPVPPVGSKRQVGSRPTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSGGSPGKGPGQGQANGFDLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELVAPLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDGKSPTVPCLQEEAGEPLGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPSAVSQRTTSPGGRPSARSPLSPTETFSWPDVRELCSKYASRDEARRAGGGRPRGPPVNRSHSVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPDGGETLYVTADLTLEDNRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPSQQGRVRNLREKFQALNSVG" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#A0A0U1RR71-1", "isoform_ac": "A0A0U1RR71-1", "locus": { "end_pos": 64727632, "start_pos": 64741494, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634379", "id": "ENST00000634379", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489373", "id": "ENSP00000489373", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RR71-1|PKHG3_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 603, "sequence": "MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVESQEFDIYTQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRNWTHHIKRLILENHHATIPQKAKEAILEMDSYYPNRYRCSPERLKKAWSSQDEVSTNVRQGRRQSEPTKHLLRQLNEKARAAGMKGKGRRESESSRSSRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLDQASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATD" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#A1L390-2", "isoform_ac": "A1L390-2", "locus": { "end_pos": 64738222, "start_pos": 64743700, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000471182", "id": "ENST00000471182", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000450945", "id": "ENSP00000450945", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L390-2|PKHG3_HUMAN Isoform 2 of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 752, "sequence": "MGKGRRESESSRSSRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLDQASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDSLSCQLSPEVDISVGVATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKIKSYYENAEHHDAGFSVRRRESLSYIPKGLVRNSISRFNSLPRPDPEPVPPVGSKRQVGSRPTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSGGSPGKGPGQGQANGFDLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELVAPLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDGKSPTVPCLQEEAGEPLGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPSAVSQRTTSPGGRPSARSPLSPTETFSWPDVRELCSKYASRDEARRAGGGRPRGPPVNRSHSVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPDGGETLYVTADLTLEDNRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPSQQGRVRNLREKFQALNSVG" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#G3V3I3-1", "isoform_ac": "G3V3I3-1", "locus": { "end_pos": 64727632, "start_pos": 64730276, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000554499", "id": "ENST00000554499", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000451256", "id": "ENSP00000451256", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G3V3I3-1|PKHG3_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 161, "sequence": "MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIENIYALNSQLLRDLDSCNS" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#A1L390-3", "isoform_ac": "A1L390-3", "locus": { "end_pos": 64727632, "start_pos": 64743700, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000394691", "id": "ENST00000394691", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000378183", "id": "ENSP00000378183", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L390-3|PKHG3_HUMAN Isoform 3 of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 1163, "sequence": "MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVESQEFDIYTQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRNWTHHIKRLILENHHATIPQKAKEAILEMDSYYPNRYRCSPERLKKAWSSQDEVSTNVRQGRRQSEPTKHLLRQLNEKARAAGMKGKGRRESESSRSSRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLDQASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDSLSCQLSPEVDISVGVATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKIKSYYENAEHHDAGFSVRRRESLSYIPKGLVRNSISRFNSLPRPDPEPVPPVGSKRQVGSRPTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSGGSPGKGPGQGQANGFDLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELVAPLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDGKSPTVPCLQEEAGEPLGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPSAVSQRTTSPGGRPSARSPLSPTETFSWPDVRELCSKYASRDEARRAGGGRPRGPPVNRSHSVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPDGGETLYVTADLTLEDNRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPSQQGRVRNLREKFQALNSVG" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#G3V311-1", "isoform_ac": "G3V311-1", "locus": { "end_pos": 64738823, "start_pos": 64743700, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000484731", "id": "ENST00000484731", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000450973", "id": "ENSP00000450973", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G3V311-1|PKHG3_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 724, "sequence": "MSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLDQASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDSLSCQLSPEVDISVGVATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKIKSYYENAEHHDAGFSVRRRESLSYIPKGLVRNSISRFNSLPRPDPEPVPPVGSKRQVGSRPTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSGGSPGKGPGQGQANGFDLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELVAPLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDGKSPTVPCLQEEAGEPLGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPSAVSQRTTSPGGRPSARSPLSPTETFSWPDVRELCSKYASRDEARRAGGGRPRGPPVNRSHSVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPDGGETLYVTADLTLEDNRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPSQQGRVRNLREKFQALNSVG" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#G3V2V2-1", "isoform_ac": "G3V2V2-1", "locus": { "end_pos": 64716069, "start_pos": 64727754, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000554088", "id": "ENST00000554088", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000450880", "id": "ENSP00000450880", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G3V2V2-1|PKHG3_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=8 CANONICAL=A1L390-1", "length": 62, "sequence": "MGALLRKANLPGVPSPGSNARMPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSS" } }, { "url": "https://www.uniprot.org/uniprot/A1L390#G3V278-1", "isoform_ac": "G3V278-1", "locus": { "end_pos": 64727632, "start_pos": 64730686, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000555982", "id": "ENST00000555982", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000450501", "id": "ENSP00000450501", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G3V278-1|PKHG3_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family G member 3 OS=Homo sapiens OX=9606 GN=PLEKHG3 PE=1 SV=1 CANONICAL=A1L390-1", "length": 188, "sequence": "MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIENIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYP" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:26030", "resource": "KEGG Pathway", "id": "hsa:26030", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "annotation": "PLEKHG3 enhances polarized cell migration by activating actin filaments at the cell front.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "id": "NP_001295076.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "annotation": "This is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "id": "NP_001295076.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZA21-1", "protein_name": "Pleckstrin homology and RhoGEF domain-containing G3.", "sequence": { "length": 1368, "sequence": "MGALLRKANLPEVTVPGSDARMPVSTALHQDGSQERPPSLMSTTSSSGSSRDSHSAMEEPTGSEASAQNGTGSPWGRHIPNSNNNSSSWLNMKGPLSPFNGRAGTGPAYHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIESIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYPNSVAALTECMQDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEATFRVHRVRNERTFFLFDKILLITKKRGDHFVYKGHIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRSWTHHIKRLILENHHATIPQKAKEAILEMDSYYPSRYRCSPERMKKAWSSQDEVSAHVRQGRRQSEPTRHLLRQLSEKARAAGMKHAGSAGALLDFGQLPHAQDQQPEAEEAAREELEEEEEIVEEEEQQQQQTFPVSLEDLAGHGGNEKVPGPELPGSEEEEEEEESLAVAEQVADFASSLLAALHCWHYRANALLFSRGAMGKRHGESEGSKSCRRPSDRSPTSVEKRMSFESVSSMPEESSEQVETDPEPRAEQEAFTALEGPSPEEMPSDPEFPEALETQLHDPKGLLGVDKPAGEVDFVEPEGSEDLKTLSSEEEEEEEMGATQEPESLLPPSVLDQASVIAERFASSFSRRSSLAAEDGKCSGLGTPRLISRSSSVLSLEGSEKGLARWSSTGDSLSNPPAPEVIIGTDTVTDTGPSVNGTESLSAGSGCPTELDRSSCKKKESALSTRDRQLLDRIKSYYENAEHHDASFSIRRRESLSYIPKGLVRNSVSRFNSLPKPDSEPAAPVGYKRPGSSRPASWTLFDLPGPSRADEGDPAPITDAEFRPSSEIAKIWERMESSERSPRTGSGQSQANGFELQEPLFILEEHELGAITEESAVASPESASPTEHPSPAHLARELKELVKELSSGVQGELVTPLHPRIMQLSHVMDSHVSERVKNKVYQLARQYSLRIKNIKAARPPLHWEKATPDGDEPIPSNSGLPVEAGELSGGKARRKPVLSLLSYEQLVAQEPGTSKSSSAVETSPRRFSFSPSAVSPRTTSPGSRSSARSPLSPFDTETFNWPDVRELCSKYTSHDKTAQAESSWPRSLLVNRSRSLPENIIEPPVSGKADYCCSLNTNGRQGDGEASQPPPPESPPQSQLNGGEALYVTADLTLENNRRVIIMEKGSHPSSTMGLEEDSGKEPSSSVVLKGQGQGFQESAEHQPKEDSPRDSADTNKQGRVRNLREKFQALNSVG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1L390/", "id": "A1L390", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q4VAC9-1", "protein_name": "Pleckstrin homology domain-containing family G member 3; PH domain-containing family G member 3.", "sequence": { "length": 1341, "sequence": "MPVSTALHQDGSQERPRSLVSTTSSSGSSRDSHSAMEEPTGSEASAQNGTGSPWDRHVPNSNNNSSGWLNMKGPLSPFNGRAGTSPAYHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIESIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYPNSVAALTECMQDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRVLKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEATFRVHRVRNDRTFFLFDKILLITKKRGDHFVYKGHIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRSWTHHIKRLILENHHATIPQKAKEAILEMDSYYPSRYRCSPERMKKAWSSQDEVSSHVRQGRRQSEPGHTLFSRATLPSRQQGFEMPGLKGRRKSEPTRHLLRQLSEKARAVGMKHAGSAGALLDFGQPAHAQKQQPEAERAAREELEEEEELVEEEEQRQQSFSGSLEGLAGHDGSEKVPGPELPGSEEEEEEEESLAVAEQGKRHRESEGSKGCRRPSNRSPTSAEKRMSFESVSSLPEVETDPEPGAEQEAFAALEGPSTEEMPSDPEFPEALETQLHAPKGLLGVDNPAAVVDFVEPEGSEDLKPLSSEEEEEEEMEAAQEPESLLPPSVLDQASVIAERFASSFSRRSSLAIEDGKSSGLGTPRLISRSSSVLSLEGSDKGLARWSSIGDSLSNPPTPEVIIGADMVTDNGPSVNGTESPSAGSGCPTEQDRSSCKKKESALSTRDRQLLDKIKNYYENAEHHDAGFSIRRRESLSYIPKGLVRSSVSRFNSLPKPDSEPAAPVGYKRPGSSRPASWTLFDLPGPRTDKGDPAPITDAEFCPSSEIAKIWERMESSERSPRTGSGQSQANGFELQEPLFILEEHELGAITEESAVASPESASPTEQPSPAHLARELKELVKELSSSVQGELVTPLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKNIKAARPPLQWEKVTPDQEEQVPSISGLPEEAGELSGGKARRKPVLSLLSYEQLVAQEHGTSKSSAAVETSPRRFSFSPSAVSPRTTSPGARSSARSPLSPFDTETFNWPDVRELCSKYTSHDKTAQVESSWPRSLLVNRSRSLPENIVEPPMSGKADRCCGLNTHRRLGDGEASQPPLPESPPQSQLNGGDALYVTADLTLENNQRVIIMEKGPHPSSTVGLEEDSGKESSSPVALKGQGQGFQASAEYQPKEHGPRDSADTNKQGRVRNLREKFQALNSVG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1L390/", "id": "A1L390", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/77478", "id": "77478", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "ac": "NP_001295076.1", "name": "pleckstrin homology domain-containing family G member 3; pleckstrin homology domain containing, family G, member 3; PH domain-containing family G member 3; pleckstrin homology domain containing, family G (with RhoGef domain) member 3.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005089", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L390", "id": "A1L390", "database": "UniProtKB" } ], "name": "Rho guanyl-nucleotide exchange factor activity", "id": "GO:0005089" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L390", "id": "A1L390", "database": "UniProtKB" } ], "name": "regulation of Rho protein signal transduction", "id": "GO:0035023" } ], "total": 1, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 65, "annotation": "n_glycosylation_sequon", "start_pos": 63 }, { "end_pos": 66, "annotation": "n_glycosylation_sequon", "start_pos": 64 }, { "end_pos": 386, "annotation": "n_glycosylation_sequon", "start_pos": 384 }, { "end_pos": 1079, "annotation": "n_glycosylation_sequon", "start_pos": 1077 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295076.1", "id": "NP_001295076.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20364", "id": "20364", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A1L390", "id": "A1L390", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A1L390", "id": "NX_A1L390", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG3", "id": "PLEKHG3", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:26030", "id": "hsa:26030", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/SEIVKMW/", "id": "SEIVKMW", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00160", "id": "cd00160", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "id": "IPR001849", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "id": "IPR011993", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000219", "id": "IPR000219", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035899", "id": "IPR035899", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF00169", "id": "PF00169", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00621", "id": "PF00621", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A1L390", "id": "PR_A1L390", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1L390*", "id": "A1L390", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/26030", "id": "26030", "database": "GeneID" } ], "expression_disease": [ { "trend": "Up", "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/A1L390", "id": "A1L390", "database": "BioXpress" } ] }, { "trend": "Up", "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/A1L390", "id": "A1L390", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L390", "id": "A1L390", "database": "BioXpress" } ] }, { "trend": "Up", "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/A1L390", "id": "A1L390", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L390", "id": "A1L390", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L390", "id": "A1L390", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L390", "id": "A1L390", "database": "BioXpress" } ] } ], "uniprot_ac": "A1L390", "disease": [], "mass": { "monoisotopic_mass": 134412.0, "chemical_mass": 134412.0 }, "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=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126822", "id": "ENSG00000126822", "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=ENSG00000126822", "id": "ENSG00000126822", 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