{ "uniprot_canonical_ac": "A4D1P6-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D1P6-1|WDR91_HUMAN Isoform 1 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1", "length": 747, "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA" }, "uniprot_id": "WDR91_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "taxid": 9606, "name": "Homo sapiens", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6", "database": "UniProtKB" } ] } ], "crossref_internal": { "gene": [ "WDR91" ], "species": [ 9606 ], "disease": [ "DOID:3571", "DOID:1781", "DOID:10283", "DOID:3910", "DOID:11054", "DOID:3907", "DOID:5041" ], "site": [ "A4D1P6-1.418.418", "A4D1P6-1.288.288", "A4D1P6-1.566.568", "A4D1P6-1.256.256", "A4D1P6-1.451.451", "A4D1P6-1.293.293", "A4D1P6-1.425.425", "A4D1P6-1.254.254", "A4D1P6-1.286.286", "A4D1P6-1.250.252", "A4D1P6-1.241.241" ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "type": [ "PubMed" ], "id": "11230166" } ], "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6", "database": "UniProtKB" } ], "authors": "Ansorge W., Bauersachs S., Beyer A., Bloecker H., Blum H., Boecher M., Duesterhoeft A., Gassenhuber J., Glassl S., Heubner D., Klein M., Koehrer K., Korn B., Lauber J., Mewes H.-W., Obermaier B., Ottenwaelder B., Poustka A., Strack N., Tampe J., Wambutt R., Weil B., Wellenreuther R., Wiemann S.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16964243", "type": [ "PubMed" ], "id": "16964243" } ], "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nat. Biotechnol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Gerber S.A., Gygi S.P., Rush J., Villen J.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26783301", "type": [ "PubMed" ], "id": "26783301" } ], "title": "Negative regulation of phosphatidylinositol 3-phosphate levels in early-to-late endosome conversion.", "journal": "J. Cell Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "id": "NP_054868.3", "database": "RefSeq" } ], "authors": "Li Y., Liu X., Sun X., Xu J., Zhang Z., Yang C., Gao Z., Liu K., He S., Jian Y., Jing Y., Mitani S., Yang C.'", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27126989", "type": [ "PubMed" ], "id": "27126989" } ], "title": "A genetic screen identifies a critical role for the WDR81-WDR91 complex in the trafficking and degradation of tetherin.", "journal": "Traffic", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "id": "NP_054868.3", "database": "RefSeq" } ], "authors": "Lehner P.J., Timms R.T., Davis L.J., Paul Luzio J., Rapiteanu R., Williamson J.C.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28404643", "type": [ "PubMed" ], "id": "28404643" } ], "title": "The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.", "journal": "J. Cell Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "id": "NP_054868.3", "database": "RefSeq" } ], "authors": "Li Y., Liu X., Wang X., Luo S., Yang C., Gao Z., Liu K., Guo W., Tang C., Jian Y., Gan Q., Xing R.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28860274", "type": [ "PubMed" ], "id": "28860274" } ], "title": "WDR91 is a Rab7 effector required for neuronal development.", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "id": "NP_054868.3", "database": "RefSeq" } ], "authors": "Liu K, Xing R, Jian Y, Gao Z, Ma X, Sun X, Li Y, Xu M, Wang X, Jing Y, Guo W, Yang C", "date": "2017" } ], "uniprot_ac": "A4D1P6", "site_annotation": [ { "end_pos": 252, "annotation": "n_glycosylation_sequon", "start_pos": 250 }, { "end_pos": 568, "annotation": "n_glycosylation_sequon", "start_pos": 566 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6#A4D1P6-1", "isoform_ac": "A4D1P6-1", "sequence": { "header": "sp|A4D1P6-1|WDR91_HUMAN Isoform 1 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1", "length": 747, "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA" }, "locus": { "chromosome": "7", "end_pos": 135186154, "start_pos": 135211502, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000354475", "id": "ENST00000354475", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000346466", "id": "ENSP00000346466", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A4D1P6#A4D1P6-2", "isoform_ac": "A4D1P6-2", "sequence": { "header": "sp|A4D1P6-2|WDR91_HUMAN Isoform 2 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1", "length": 636, "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFVHPVEHPQEWPQGIRVQPPLRCHGPLCAVWIQRLQAGSSPQGPTLRF" }, "locus": {} }, { "url": "https://www.uniprot.org/uniprot/A4D1P6#A4D1P6-3", "isoform_ac": "A4D1P6-3", "sequence": { "header": "sp|A4D1P6-3|WDR91_HUMAN Isoform 3 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1", "length": 365, "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQVWGCPEHPWGHSCSY" }, "locus": {} }, { "url": "https://www.uniprot.org/uniprot/A4D1P6#C9J1X0-1", "isoform_ac": "C9J1X0-1", "sequence": { "header": "tr|C9J1X0-1|WDR91_HUMAN Computationally mapped isoform of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=1 CANONICAL=A4D1P6-1", "length": 712, "sequence": "MIFHCEVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA" }, "locus": { "chromosome": "7", "end_pos": 135186154, "start_pos": 135210850, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423565", "id": "ENST00000423565", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392555", "id": "ENSP00000392555", "database": "Ensembl Peptide" } ] } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:29062", "resource": "KEGG Pathway", "id": "hsa:29062", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6#function", "annotation": "Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1P6#function", "id": "A4D1P6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "annotation": "Suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "id": "NP_054868.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "annotation": "WDR91 serves as a Rab7 effector that is essential for neuronal development by facilitating endosome conversion in the endosome-lysosome pathway.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868.3", "id": "NP_054868.3", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B2RYI0-1", "protein_name": "WD repeat-containing protein 91", "sequence": { "length": 747, "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTINKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIISLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEVHRLKKEEQQQEEAAALVQHKLPPYVSSMDRLGDSELALVCSQRPASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQAQSSAKKDTFSSQATKGKDPVPGAKDGKSLLSGPVPGEASWTHQRQRRLQDHGKERRELLSTSSSQTQCAEKKLEGSGPEAELCLDLHMGPVEALARVSTAGSEGDRPEQPFIVLSQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDDMPRILSLACSPNGASFVCSAAAPSLTSQPDSSAPDIGSKGMNQVPGKLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHGCAMSWKAHCGEVYSVEFSYDENAVNSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGLIYKLGSEEKVLENCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D1P6/", "id": "A4D1P6", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/8562", "id": "8562", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q7TMQ7-1", "protein_name": "WD repeat-containing protein 91", "sequence": { "length": 748, "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTINKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIISLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQQEEEAAALVQHKLPPYVSSMDRLGDSELALVCSQRPASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQAQSSAKKDSFSSQATKGKDSVPGAKDGKSLLSGPVPGEASWTHQRQRRLQDHGKERRELLSTSSSQSQCAERKPEVSGAEAEPCLELHMGPVEVLARVSTAGSEGDRPEQPFIVLSQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDDMPRILSLACSPNGASFVCSAAAPSLTSQTDSSAPDIGSKGMNQVPGKLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWKAHCGEVYSVEFSCDENAVYSIGEDRKFIQWNIHKSGLKVSESNLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGLIYKLGSEEKVLENCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D1P6/", "id": "A4D1P6", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/8562", "id": "8562", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "subjects_tested": "50", "alt_nt": "C", "chr_id": "7", "ref_nt": "T", "chr_pos": "134890683", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "Thyroid gland neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant tumour of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid gland cancer" } } ], "glycoeffect": [], "end_pos": 241, "frequency": "2.0", "sequence_mut": "G", "start_pos": 241, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1P6", "id": "A4D1P6", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "Q", "subjects_tested": "103", "alt_nt": "A", "chr_id": "7", "ref_nt": "G", "chr_pos": "134889055", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "description": "", "resource": "Disease Ontology", "id": "DOID:11054", "name": "bladder cancer" }, { "url": "http://disease-ontology.org/term/DOID:11054", "description": "", "resource": "Disease Ontology", "id": "DOID:11054", "name": "tumor of the bladder" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "resource": "Disease Ontology", "id": "DOID:11054", "name": "urinary bladder cancer" } } ], "glycoeffect": [], "end_pos": 286, "frequency": "1.0", "sequence_mut": "*", "start_pos": 286, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1P6", "id": "A4D1P6", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%)." }, { "sequence_org": "C", "subjects_tested": "50", "alt_nt": "T", "chr_id": "7", "ref_nt": "A", "chr_pos": "134879829", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "Thyroid gland neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant tumour of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid gland cancer" } } ], "glycoeffect": [], "end_pos": 418, "frequency": "2.0", "sequence_mut": "S", "start_pos": 418, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1P6", "id": "A4D1P6", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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