{
    "uniprot_canonical_ac": "A0AV96-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "sp|A0AV96-1|RBM47_HUMAN Isoform 1 of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=2 CANONICAL=A0AV96-1", 
        "length": 593, 
        "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY"
    }, 
    "uniprot_id": "RBM47_HUMAN", 
    "enzyme_annotation": [], 
    "glycation": [], 
    "keywords": [
        "glycoprotein", 
        "reported_with_glycan.glygen_ds"
    ], 
    "species": [
        {
            "common_name": "Human", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0AV96", 
                    "id": "A0AV96", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "publication": [
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/24898756", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "24898756"
                }
            ], 
            "title": "Loss of the multifunctional RNA-binding protein RBM47 as a source of selectable metastatic traits in breast cancer.", 
            "journal": "eLife", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Vanharanta S, Marney CB, Shu W, Valiente M, Zou Y, Mele A, Darnell RB, Massague J", 
            "date": "2014"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/30403177", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "30403177"
                }
            ], 
            "title": "miR-25 Promotes Melanoma Progression by regulating RNA binding motif protein 47.", 
            "journal": "Medecine sciences : M/S", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Jiang QQ, Liu WB", 
            "date": "2018"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/28510447", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "28510447"
                }
            ], 
            "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", 
            "journal": "Analytical chemistry", 
            "evidence": [
                {
                    "url": "https://data.glygen.org/GLYDS000517", 
                    "id": "GLYDS000517", 
                    "database": "GlyGen"
                }
            ], 
            "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", 
            "date": "2017"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/26923328", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "26923328"
                }
            ], 
            "title": "RNA-binding motif protein 47 inhibits Nrf2 activity to suppress tumor growth in lung adenocarcinoma.", 
            "journal": "Oncogene", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Sakurai T, Isogaya K, Sakai S, Morikawa M, Morishita Y, Ehata S, Miyazono K, Koinuma D", 
            "date": "2016"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/22658674", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "22658674"
                }
            ], 
            "title": "Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.", 
            "journal": "Cell", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J, Hentze MW", 
            "date": "2012"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "24129315"
                }
            ], 
            "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", 
            "journal": "Mol. Cell. Proteomics", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0AV96", 
                    "id": "A0AV96", 
                    "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"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/30059200", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "30059200"
                }
            ], 
            "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", 
            "journal": "ACS chemical biology", 
            "evidence": [
                {
                    "url": "https://data.glygen.org/GLYDS000517", 
                    "id": "GLYDS000517", 
                    "database": "GlyGen"
                }
            ], 
            "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", 
            "date": "2018"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/16341674", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "16341674"
                }
            ], 
            "title": "Transcriptome analysis of human gastric cancer.", 
            "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS", 
            "date": "2005"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/29237092", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "29237092"
                }
            ], 
            "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", 
            "journal": "Angewandte Chemie (International ed. in English)", 
            "evidence": [
                {
                    "url": "https://data.glygen.org/GLYDS000517", 
                    "id": "GLYDS000517", 
                    "database": "GlyGen"
                }
            ], 
            "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", 
            "date": "2018"
        }
    ], 
    "uniprot_ac": "A0AV96", 
    "site_annotation": [
        {
            "end_pos": 304, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 302
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6RBS9-1", 
            "isoform_ac": "D6RBS9-1", 
            "locus": {
                "end_pos": 40438243, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000515053", 
                        "id": "ENST00000515053", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000422564", 
                        "id": "ENSP00000422564", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6RBS9-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1", 
                "length": 217, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPG"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6R9D6-1", 
            "isoform_ac": "D6R9D6-1", 
            "locus": {
                "end_pos": 40436830, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000510871", 
                        "id": "ENST00000510871", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000422945", 
                        "id": "ENSP00000422945", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6R9D6-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1", 
                "length": 393, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKDTILETHPASLPLVLRRHA"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6RFL5-1", 
            "isoform_ac": "D6RFL5-1", 
            "locus": {
                "end_pos": 40438483, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000514782", 
                        "id": "ENST00000514782", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000426542", 
                        "id": "ENSP00000426542", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6RFL5-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1", 
                "length": 137, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIR"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#A0AV96-2", 
            "isoform_ac": "A0AV96-2", 
            "locus": {
                "end_pos": 40425907, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000381795", 
                        "id": "ENST00000381795", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000371214", 
                        "id": "ENSP00000371214", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A0AV96-2|RBM47_HUMAN Isoform 2 of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=2 CANONICAL=A0AV96-1", 
                "length": 524, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#A0AV96-1", 
            "isoform_ac": "A0AV96-1", 
            "locus": {
                "end_pos": 40425907, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000381793", 
                        "id": "ENST00000381793", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000371212", 
                        "id": "ENSP00000371212", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A0AV96-1|RBM47_HUMAN Isoform 1 of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=2 CANONICAL=A0AV96-1", 
                "length": 593, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#B7Z8Z7-1", 
            "isoform_ac": "B7Z8Z7-1", 
            "locus": {
                "end_pos": 40425907, 
                "strand": "+", 
                "start_pos": 40438779, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000514014", 
                        "id": "ENST00000514014", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000423243", 
                        "id": "ENSP00000423243", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|B7Z8Z7-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1", 
                "length": 555, 
                "sequence": "MERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAAAMYGGYAGYIPQAFPAAAIQVPIPDVYQTY"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6RBP6-1", 
            "isoform_ac": "D6RBP6-1", 
            "locus": {
                "end_pos": 40438555, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000511598", 
                        "id": "ENST00000511598", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000424019", 
                        "id": "ENSP00000424019", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6RBP6-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=8 CANONICAL=A0AV96-1", 
                "length": 113, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGY"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6RA49-1", 
            "isoform_ac": "D6RA49-1", 
            "locus": {
                "end_pos": 40438525, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000507180", 
                        "id": "ENST00000507180", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000423398", 
                        "id": "ENSP00000423398", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6RA49-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=8 CANONICAL=A0AV96-1", 
                "length": 123, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHE"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6REZ6-1", 
            "isoform_ac": "D6REZ6-1", 
            "locus": {
                "end_pos": 40438315, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000513473", 
                        "id": "ENST00000513473", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000421589", 
                        "id": "ENSP00000421589", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6REZ6-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1", 
                "length": 193, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKN"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6R9M7-1", 
            "isoform_ac": "D6R9M7-1", 
            "locus": {
                "end_pos": 40438420, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000505414", 
                        "id": "ENST00000505414", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000423527", 
                        "id": "ENSP00000423527", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6R9M7-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=8 CANONICAL=A0AV96-1", 
                "length": 158, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGI"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96#D6RCT1-1", 
            "isoform_ac": "D6RCT1-1", 
            "locus": {
                "end_pos": 40438717, 
                "strand": "+", 
                "start_pos": 40438893, 
                "chromosome": "4", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000505220", 
                        "id": "ENST00000505220", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000425507", 
                        "id": "ENSP00000425507", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|D6RCT1-1|RBM47_HUMAN Computationally mapped isoform of RNA-binding protein 47  OS=Homo sapiens OX=9606 GN=RBM47 PE=1 SV=1 CANONICAL=A0AV96-1", 
                "length": 59, 
                "sequence": "MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPP"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54502", 
            "resource": "KEGG Pathway", 
            "id": "hsa:54502", 
            "name": ""
        }
    ], 
    "function": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
            "annotation": "RBM47 is an RNA-binding protein that can suppress breast cancer progression Publication Status: Online-Only", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
            "annotation": "MiR-25 could directly target the RNA-binding motif protein 47 (RBM47). RBM47 is a promising target for the treatment of melanoma.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
            "annotation": "Our findings, together with the enhanced tumor formation and metastasis of xenografted mice by knockdown of the RBM47 expression, suggested tumor-suppressive roles for RBM47 through the inhibition of Nrf2 activity Erratum:[Oncogene. 2017 Jun 12;:. PMID: 28604754]", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
                    "id": "NP_001092104.1", 
                    "database": "RefSeq"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "Q66H68-1", 
            "protein_name": "RNA-binding protein 47", 
            "sequence": {
                "length": 590, 
                "sequence": "MTAEDSTTAMNSDPTVGSSTKVPEGVAGAPNEAALLALMERTGYNMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFETVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKRGEILEEIAKVTEGVLNVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMQTVKILYVRNLMIETTEETIKRSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAAKGGGGSAEAVAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKTGSIRGRGRGAAGNRTPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEISAVNPVAIKPGTVAIPAIGAQYSMFQAAPAPKIIEDGKIHTMEHMISPIAVQPDPATAAAAAAAAAAAAVIPAVSTPPPFQGRPITPVYTVAPNVPRIPTAGIYGASYVPFAAPATATIATLQKNAAAAVYGGYAGYIPQAFPAALQVPIHDVYQTY"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/36932", 
                    "id": "36932", 
                    "database": "MGI"
                }, 
                {
                    "url": "https://omabrowser.org/oma/group/A0AV96/", 
                    "id": "A0AV96", 
                    "database": "OMA"
                }
            ], 
            "common_name": "Rat", 
            "organism": "Rattus norvegicus", 
            "tax_id": 10116
        }, 
        {
            "uniprot_canonical_ac": "Q91WT8-1", 
            "protein_name": "RNA-binding protein 47", 
            "sequence": {
                "length": 590, 
                "sequence": "MTAEDSATAMNSDPTVGSSTKVPEGVAGAPNEAALLALIERTGYTMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFETVGRIYELRLMMDFDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKRGEILEEIAKVTEGVLNVIVYASAADKMKNRGFAFVEYESHRAAAMARRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMQTVKILYVRNLMIETTEETIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTLAKPVDKEQYSRYQKAAKGGGGSAEAVAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKTGSIRGRGRGAAGNRTPGPRGSYLGGYSAGRGIYSRYHEGKGKQQEKGYELVPNLEISPVNPVAIKPGTVAIPAIGAQYSMFQAAPAPKIIEDGKIHTMEHMISPIAVQPDPATAAAAAAAAAAAAVIPAVSTPPPFQGRPITPVYTVAPNVQRIPTAGIYGASYVPFAAPATATIATLQKNAAAAVYGGYAGYIPQAFPAALQVPIHDVYQTY"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/36932", 
                    "id": "36932", 
                    "database": "MGI"
                }, 
                {
                    "url": "https://omabrowser.org/oma/group/A0AV96/", 
                    "id": "A0AV96", 
                    "database": "OMA"
                }
            ], 
            "common_name": "Mouse", 
            "organism": "Mus musculus", 
            "tax_id": 10090
        }
    ], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [
        {
            "sequence_org": "M", 
            "start_pos": 161, 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "T", 
            "chr_pos": "40440430", 
            "disease": [
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:1324", 
                        "url": "http://disease-ontology.org/term/DOID:1324", 
                        "resource": "Disease Ontology", 
                        "name": "lung cancer", 
                        "description": "A respiratory system cancer that is located_in the lung."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.4", 
            "sequence_mut": "L", 
            "subjects_tested": "1514", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514).", 
            "end_pos": 161, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "36"
        }, 
        {
            "sequence_org": "G", 
            "start_pos": 376, 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40438662", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "C", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 376, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "E", 
            "start_pos": 123, 
            "alt_nt": "T", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40440544", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:11054", 
                            "url": "http://disease-ontology.org/term/DOID:11054", 
                            "resource": "Disease Ontology", 
                            "name": "bladder cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:11054", 
                            "url": "http://disease-ontology.org/term/DOID:11054", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the bladder", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:11054", 
                        "url": "http://disease-ontology.org/term/DOID:11054", 
                        "resource": "Disease Ontology", 
                        "name": "urinary bladder cancer", 
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "BT - Brain tumour", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "adult brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "adult malignant brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "brain neoplasm, adult", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant brain tumour", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant primary brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant primary brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of adult brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary malignant neoplasm of brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the Brain", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1319", 
                        "url": "http://disease-ontology.org/term/DOID:1319", 
                        "resource": "Disease Ontology", 
                        "name": "brain cancer", 
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:4159", 
                            "url": "http://disease-ontology.org/term/DOID:4159", 
                            "resource": "Disease Ontology", 
                            "name": "CA - skin cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:4159", 
                            "url": "http://disease-ontology.org/term/DOID:4159", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of skin", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:4159", 
                            "url": "http://disease-ontology.org/term/DOID:4159", 
                            "resource": "Disease Ontology", 
                            "name": "melanoma and Non-melanoma skin cancer", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:4159", 
                        "url": "http://disease-ontology.org/term/DOID:4159", 
                        "resource": "Disease Ontology", 
                        "name": "skin cancer", 
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.1", 
            "sequence_mut": "K", 
            "subjects_tested": "742", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", 
            "end_pos": 123, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "A", 
            "start_pos": 330, 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "G", 
            "chr_pos": "40439922", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "malignant Ovarian tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of ovary", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "ovarian neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "ovary neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "primary ovarian cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the Ovary", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:2394", 
                        "url": "http://disease-ontology.org/term/DOID:2394", 
                        "resource": "Disease Ontology", 
                        "name": "ovarian cancer", 
                        "description": "A female reproductive organ cancer that is located_in the ovary."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.1", 
            "sequence_mut": "V", 
            "subjects_tested": "93", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", 
            "end_pos": 330, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "Y", 
            "alt_nt": "G", 
            "chr_id": "4", 
            "ref_nt": "T", 
            "chr_pos": "40438493", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "AML - acute Myeloid Leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "Leukemia, Myelocytic, acute", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloid leukaemia", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9119", 
                        "url": "http://disease-ontology.org/term/DOID:9119", 
                        "resource": "Disease Ontology", 
                        "name": "acute myeloid leukemia", 
                        "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:12798", 
                        "url": "http://disease-ontology.org/term/DOID:12798", 
                        "resource": "Disease Ontology", 
                        "name": "mucopolysaccharidosis", 
                        "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0060212", 
                            "url": "http://disease-ontology.org/term/DOID:0060212", 
                            "resource": "Disease Ontology", 
                            "name": "ALS21", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0060212", 
                        "url": "http://disease-ontology.org/term/DOID:0060212", 
                        "resource": "Disease Ontology", 
                        "name": "amyotrophic lateral sclerosis type 21", 
                        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "Harper's syndrome", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "Virchow-Seckel dwarfism", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "bird-headed dwarfism", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "microcephalic primordial dwarfism", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0050569", 
                        "url": "http://disease-ontology.org/term/DOID:0050569", 
                        "resource": "Disease Ontology", 
                        "name": "Seckel syndrome", 
                        "description": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763012640", 
                    "id": "rs763012640", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763012640", 
                    "id": "rs763012640", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs763012640#frequency_tab", 
                    "id": "rs763012640", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs763012640", 
                    "id": "rs763012640", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 134, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 134, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNY->NNS)."
        }, 
        {
            "sequence_org": "A", 
            "start_pos": 458, 
            "alt_nt": "T", 
            "chr_id": "4", 
            "ref_nt": "G", 
            "chr_pos": "40434837", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "E", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 458, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "A", 
            "start_pos": 491, 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "G", 
            "chr_pos": "40434738", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "V", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 491, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "G", 
            "alt_nt": "T", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40438311", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "AML - acute Myeloid Leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "Leukemia, Myelocytic, acute", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloid leukaemia", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9119", 
                        "url": "http://disease-ontology.org/term/DOID:9119", 
                        "resource": "Disease Ontology", 
                        "name": "acute myeloid leukemia", 
                        "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:12798", 
                        "url": "http://disease-ontology.org/term/DOID:12798", 
                        "resource": "Disease Ontology", 
                        "name": "mucopolysaccharidosis", 
                        "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0060212", 
                            "url": "http://disease-ontology.org/term/DOID:0060212", 
                            "resource": "Disease Ontology", 
                            "name": "ALS21", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0060212", 
                        "url": "http://disease-ontology.org/term/DOID:0060212", 
                        "resource": "Disease Ontology", 
                        "name": "amyotrophic lateral sclerosis type 21", 
                        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268453430", 
                    "id": "rs1268453430", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1268453430#frequency_tab", 
                    "id": "rs1268453430", 
                    "database": "TOPMed"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 195, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 195, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRG->NRS)."
        }, 
        {
            "sequence_org": "A", 
            "start_pos": 284, 
            "alt_nt": "T", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40440061", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "BT - Brain tumour", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "adult brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "adult malignant brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "brain neoplasm, adult", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant brain tumour", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant primary brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant primary brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of adult brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary malignant neoplasm of brain", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the Brain", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1319", 
                        "url": "http://disease-ontology.org/term/DOID:1319", 
                        "resource": "Disease Ontology", 
                        "name": "brain cancer", 
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.3", 
            "sequence_mut": "T", 
            "subjects_tested": "78", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%).", 
            "end_pos": 284, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "A", 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40438797", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "AML - acute Myeloid Leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "Leukemia, Myelocytic, acute", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloid leukaemia", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9119", 
                        "url": "http://disease-ontology.org/term/DOID:9119", 
                        "resource": "Disease Ontology", 
                        "name": "acute myeloid leukemia", 
                        "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:12798", 
                        "url": "http://disease-ontology.org/term/DOID:12798", 
                        "resource": "Disease Ontology", 
                        "name": "mucopolysaccharidosis", 
                        "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "NIDDM", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "non-insulin-dependent diabetes mellitus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "type 2 diabetes", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "type II diabetes mellitus", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9352", 
                        "url": "http://disease-ontology.org/term/DOID:9352", 
                        "resource": "Disease Ontology", 
                        "name": "type 2 diabetes mellitus", 
                        "description": "A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:0060438", 
                        "url": "http://disease-ontology.org/term/DOID:0060438", 
                        "resource": "Disease Ontology", 
                        "name": "Cole-Carpenter syndrome", 
                        "description": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0060212", 
                            "url": "http://disease-ontology.org/term/DOID:0060212", 
                            "resource": "Disease Ontology", 
                            "name": "ALS21", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0060212", 
                        "url": "http://disease-ontology.org/term/DOID:0060212", 
                        "resource": "Disease Ontology", 
                        "name": "amyotrophic lateral sclerosis type 21", 
                        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0090014", 
                            "url": "http://disease-ontology.org/term/DOID:0090014", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0090014", 
                        "url": "http://disease-ontology.org/term/DOID:0090014", 
                        "resource": "Disease Ontology", 
                        "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive", 
                        "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "Harper's syndrome", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "Virchow-Seckel dwarfism", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "bird-headed dwarfism", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "microcephalic primordial dwarfism", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0050569", 
                        "url": "http://disease-ontology.org/term/DOID:0050569", 
                        "resource": "Disease Ontology", 
                        "name": "Seckel syndrome", 
                        "description": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923646006", 
                    "id": "rs923646006", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs923646006#frequency_tab", 
                    "id": "rs923646006", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs923646006", 
                    "id": "rs923646006", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 33, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 33, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NES)."
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "C", 
            "chr_id": "4", 
            "ref_nt": "T", 
            "chr_pos": "40437989", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "AML - acute Myeloid Leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "Leukemia, Myelocytic, acute", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloid leukaemia", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9119", 
                        "url": "http://disease-ontology.org/term/DOID:9119", 
                        "resource": "Disease Ontology", 
                        "name": "acute myeloid leukemia", 
                        "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:12798", 
                        "url": "http://disease-ontology.org/term/DOID:12798", 
                        "resource": "Disease Ontology", 
                        "name": "mucopolysaccharidosis", 
                        "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777068193", 
                    "id": "rs777068193", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777068193", 
                    "id": "rs777068193", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs777068193", 
                    "id": "rs777068193", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 302, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 302, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS)."
        }, 
        {
            "sequence_org": "A", 
            "start_pos": 559, 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "G", 
            "chr_pos": "40428027", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "V", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 559, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "A", 
            "start_pos": 29, 
            "alt_nt": "T", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40440826", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "T", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 29, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "A", 
            "alt_nt": "T", 
            "chr_id": "4", 
            "ref_nt": "C", 
            "chr_pos": "40438797", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "AML - acute Myeloid Leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "Leukemia, Myelocytic, acute", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloid leukaemia", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9119", 
                        "url": "http://disease-ontology.org/term/DOID:9119", 
                        "resource": "Disease Ontology", 
                        "name": "acute myeloid leukemia", 
                        "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:12798", 
                        "url": "http://disease-ontology.org/term/DOID:12798", 
                        "resource": "Disease Ontology", 
                        "name": "mucopolysaccharidosis", 
                        "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "NIDDM", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "non-insulin-dependent diabetes mellitus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "type 2 diabetes", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9352", 
                            "url": "http://disease-ontology.org/term/DOID:9352", 
                            "resource": "Disease Ontology", 
                            "name": "type II diabetes mellitus", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9352", 
                        "url": "http://disease-ontology.org/term/DOID:9352", 
                        "resource": "Disease Ontology", 
                        "name": "type 2 diabetes mellitus", 
                        "description": "A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:0060438", 
                        "url": "http://disease-ontology.org/term/DOID:0060438", 
                        "resource": "Disease Ontology", 
                        "name": "Cole-Carpenter syndrome", 
                        "description": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0060212", 
                            "url": "http://disease-ontology.org/term/DOID:0060212", 
                            "resource": "Disease Ontology", 
                            "name": "ALS21", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0060212", 
                        "url": "http://disease-ontology.org/term/DOID:0060212", 
                        "resource": "Disease Ontology", 
                        "name": "amyotrophic lateral sclerosis type 21", 
                        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0090014", 
                            "url": "http://disease-ontology.org/term/DOID:0090014", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0090014", 
                        "url": "http://disease-ontology.org/term/DOID:0090014", 
                        "resource": "Disease Ontology", 
                        "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive", 
                        "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "Harper's syndrome", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "Virchow-Seckel dwarfism", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "bird-headed dwarfism", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:0050569", 
                            "url": "http://disease-ontology.org/term/DOID:0050569", 
                            "resource": "Disease Ontology", 
                            "name": "microcephalic primordial dwarfism", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:0050569", 
                        "url": "http://disease-ontology.org/term/DOID:0050569", 
                        "resource": "Disease Ontology", 
                        "name": "Seckel syndrome", 
                        "description": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923646006", 
                    "id": "rs923646006", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs923646006#frequency_tab", 
                    "id": "rs923646006", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs923646006", 
                    "id": "rs923646006", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "T", 
            "start_pos": 33, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 33, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET)."
        }, 
        {
            "sequence_org": "T", 
            "alt_nt": "A", 
            "chr_id": "4", 
            "ref_nt": "G", 
            "chr_pos": "40426118", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "AML - acute Myeloid Leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "Leukemia, Myelocytic, acute", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloblastic leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukaemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myelogenous leukemia", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:9119", 
                            "url": "http://disease-ontology.org/term/DOID:9119", 
                            "resource": "Disease Ontology", 
                            "name": "acute myeloid leukaemia", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:9119", 
                        "url": "http://disease-ontology.org/term/DOID:9119", 
                        "resource": "Disease Ontology", 
                        "name": "acute myeloid leukemia", 
                        "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243228425", 
                    "id": "rs1243228425", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243228425", 
                    "id": "rs1243228425", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "M", 
            "start_pos": 523, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 523, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: o-glyco-sequon-loss (T->M)."
        }
    ], 
    "cluster_types": [
        {
            "name": "isoformset.uniprotkb", 
            "label": "Isoforms"
        }, 
        {
            "name": "homologset.mgi", 
            "label": "MGI Homologs"
        }, 
        {
            "name": "homologset.oma", 
            "label": "OMA Homologs"
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
        "ac": "NP_001092104.1", 
        "name": "RNA-binding protein 47 isoform a", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", 
                        "pmid": "22658674", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0AV96", 
                                "id": "A0AV96", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "RNA binding", 
                        "id": "GO:0003723"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", 
                        "pmid": "22681889", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0AV96", 
                                "id": "A0AV96", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "RNA binding", 
                        "id": "GO:0003723"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0AV96", 
                                "id": "A0AV96", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "mRNA binding", 
                        "id": "GO:0003729"
                    }
                ], 
                "total": 3, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0AV96", 
                                "id": "A0AV96", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nucleus", 
                        "id": "GO:0005634"
                    }
                ], 
                "total": 1, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0AV96", 
                                "id": "A0AV96", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cytidine to uridine editing", 
                        "id": "GO:0016554"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0AV96", 
                                "id": "A0AV96", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "hematopoietic progenitor cell differentiation", 
                        "id": "GO:0002244"
                    }
                ], 
                "total": 2, 
                "name": "Biological Process"
            }
        ]
    }, 
    "gene_names": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0AV96", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "NET18"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "RBM47"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0AV96", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "RBM47"
        }
    ], 
    "crossref": [
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163694", 
            "id": "ENSG00000163694", 
            "database": "Bgee"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54502", 
            "id": "hsa:54502", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF00076", 
            "id": "PF00076", 
            "database": "Pfam"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12491", 
            "id": "cd12491", 
            "database": "CDD"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12497", 
            "id": "cd12497", 
            "database": "CDD"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM47", 
            "id": "RBM47", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR034445", 
            "id": "IPR034445", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR034442", 
            "id": "IPR034442", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AV96*", 
            "id": "A0AV96", 
            "database": "IntAct"
        }, 
        {
            "url": "https://www.rcsb.org/structure/2DIS", 
            "id": "2DIS", 
            "database": "PDB"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR000504", 
            "id": "IPR000504", 
            "database": "InterPro"
        }, 
        {
            "url": "http://www.orthodb.org/?query=1384330at2759", 
            "id": "1384330at2759", 
            "database": "OrthoDB"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR012677", 
            "id": "IPR012677", 
            "database": "InterPro"
        }, 
        {
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV96", 
            "id": "A0AV96", 
            "database": "BioMuta"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21245:SF6", 
            "id": "PTHR21245:SF6", 
            "database": "PANTHER"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/ARMSNDS/", 
            "id": "ARMSNDS", 
            "database": "OMA"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR006535", 
            "id": "IPR006535", 
            "database": "InterPro"
        }, 
        {
            "url": "https://pharos.nih.gov/targets/A0AV96", 
            "id": "A0AV96", 
            "database": "PHAROS"
        }, 
        {
            "url": "https://www.nextprot.org/entry/NX_A0AV96", 
            "id": "NX_A0AV96", 
            "database": "neXtProt"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104.1", 
            "id": "NP_001092104.1", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR035979", 
            "id": "IPR035979", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR034440", 
            "id": "IPR034440", 
            "database": "InterPro"
        }, 
        {
            "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0AV96", 
            "id": "PR_A0AV96", 
            "database": "PRO"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/54502", 
            "id": "54502", 
            "database": "GeneID"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30358", 
            "id": "30358", 
            "database": "HGNC"
        }
    ], 
    "expression_disease": [
        {
            "name": "Esophageal cancer [DO disease name]", 
            "trend": "Down", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca lower third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca middle third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "esophagus cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of distal third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of lower third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of middle third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of proximal third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of upper third esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Distal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Proximal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of abdominal esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the middle Third of the esophagus", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:5041", 
                        "url": "http://disease-ontology.org/term/DOID:5041", 
                        "resource": "Disease Ontology", 
                        "name": "esophageal cancer", 
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:5041", 
            "significant": "No"
        }, 
        {
            "name": "Thyroid gland cancer [DO disease name]", 
            "trend": "Down", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:1781", 
            "significant": "Yes"
        }, 
        {
            "name": "Liver cancer [DO disease name]", 
            "trend": "Down", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "Ca liver - primary", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "Resectable malignant neoplasm of Liver", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "hepatic cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "hepatic neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "malignant hepato-biliary neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of liver", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of liver, primary", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of liver", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of liver", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "non-resectable primary hepatic malignant neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "primary liver cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "primary malignant neoplasm of Liver", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "resectable malignant neoplasm of the liver", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3571", 
                            "url": "http://disease-ontology.org/term/DOID:3571", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of liver, not specified as primary or secondary", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:3571", 
                        "url": "http://disease-ontology.org/term/DOID:3571", 
                        "resource": "Disease Ontology", 
                        "name": "liver cancer", 
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:3571", 
            "significant": "No"
        }, 
        {
            "name": "Urinary bladder cancer [DO disease name]", 
            "trend": "Up", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:11054", 
                            "url": "http://disease-ontology.org/term/DOID:11054", 
                            "resource": "Disease Ontology", 
                            "name": "bladder cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:11054", 
                            "url": "http://disease-ontology.org/term/DOID:11054", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the bladder", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:11054", 
                        "url": "http://disease-ontology.org/term/DOID:11054", 
                        "resource": "Disease Ontology", 
                        "name": "urinary bladder cancer", 
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:11054", 
            "significant": "No"
        }, 
        {
            "name": "Lung squamous cell carcinoma [DO disease name]", 
            "trend": "Down", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:3907", 
                            "url": "http://disease-ontology.org/term/DOID:3907", 
                            "resource": "Disease Ontology", 
                            "name": "Epidermoid cell carcinoma of the lung", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:3907", 
                        "url": "http://disease-ontology.org/term/DOID:3907", 
                        "resource": "Disease Ontology", 
                        "name": "lung squamous cell carcinoma", 
                        "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:3907", 
            "significant": "Yes"
        }, 
        {
            "name": "Prostate cancer [DO disease name]", 
            "trend": "Up", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "NGP - new growth of prostate", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "hereditary prostate cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the prostate", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostate cancer, familial", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostate neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostatic cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostatic neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the prostate", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:10283", 
                        "url": "http://disease-ontology.org/term/DOID:10283", 
                        "resource": "Disease Ontology", 
                        "name": "prostate cancer", 
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:10283", 
            "significant": "Yes"
        }, 
        {
            "name": "Lung adenocarcinoma [DO disease name]", 
            "trend": "Down", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:3910", 
                            "url": "http://disease-ontology.org/term/DOID:3910", 
                            "resource": "Disease Ontology", 
                            "name": "bronchogenic lung adenocarcinoma", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:3910", 
                            "url": "http://disease-ontology.org/term/DOID:3910", 
                            "resource": "Disease Ontology", 
                            "name": "nonsmall cell adenocarcinoma", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:3910", 
                        "url": "http://disease-ontology.org/term/DOID:3910", 
                        "resource": "Disease Ontology", 
                        "name": "lung adenocarcinoma", 
                        "description": "A lung cancer that derives_from epithelial cells of glandular origin."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV96", 
                    "id": "A0AV96", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:3910", 
            "significant": "No"
        }
    ], 
    "glycosylation": [
        {
            "residue": "Thr", 
            "site_category": "reported_with_glycan", 
            "evidence": [
                {
                    "url": "https://data.glygen.org/GLYDS000517", 
                    "id": "GLYDS000517", 
                    "database": "GlyGen"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/30059200", 
                    "id": "30059200", 
                    "database": "PubMed"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/29237092", 
                    "id": "29237092", 
                    "database": "PubMed"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/28510447", 
                    "id": "28510447", 
                    "database": "PubMed"
                }
            ], 
            "subtype": "O-GlcNAcylation", 
            "relation": "attached", 
            "position": 523, 
            "glytoucan_ac": "G49108TO", 
            "type": "O-linked"
        }
    ], 
    "mutagenesis": [], 
    "disease": [], 
    "phosphorylation": [
        {
            "residue": "Tyr", 
            "position": "134", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", 
                    "id": "20068231", 
                    "database": "PubMed"
                }
            ], 
            "kinase_uniprot_canonical_ac": "Q6P1J9-1", 
            "kinase_gene_name": "CDC73"
        }
    ], 
    "mass": {
        "monoisotopic_mass": 64099.0, 
        "chemical_mass": 64099.0
    }, 
    "expression_tissue": [
        {
            "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=ENSG00000163694", 
                    "id": "ENSG00000163694", 
                    "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=ENSG00000163694", 
                    "id": "ENSG00000163694", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255", 
                "uberon": "0001255", 
                "name": "Urinary bladder"
            }, 
            "present": "yes", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163694", 
                    "id": "ENSG00000163694", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0009853", 
                "uberon": "0009853", 
                "name": "Body of uterus"
            }, 
            "present": "yes", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163694", 
                    "id": "ENSG00000163694", 
                    "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=ENSG00000163694", 
                    "id": "ENSG00000163694", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
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                    "id": "ENSG00000163694", 
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                "name": "Placenta"
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            "evidence": [
                {
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                    "id": "ENSG00000163694", 
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                    "id": "ENSG00000163694", 
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                "uberon": "0000007", 
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                {
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                "uberon": "0001043", 
                "name": "Esophagus"
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            "evidence": [
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                "uberon": "0000178", 
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    ], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A0AV96", 
            "name": "RBM47", 
            "locus": {
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                "strand": "-", 
                "start_pos": 40630875, 
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    ], 
    "protein_names": [
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            "type": "synonym", 
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        }, 
        {
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        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0AV96", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "RNA-binding protein 47 isoform a"
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            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "RNA-binding protein 47"
        }
    ]
}
