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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A8MYA2", "url": "https://www.uniprot.org/uniprot/A8MYA2" } ], "common_name": "Human" } ], "gene": [ { "name": "CXorf49", "url": "https://www.uniprot.org/uniprot/A8MYA2", "locus": { "chromosome": "X", "start_pos": 71714371, "end_pos": 71718285, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000215115", "url": "https://www.ensembl.org/id/ENSG00000215115" } ] } } ], "crossref": [ { "id": "ENSG00000215113", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215113", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CXorf49", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXorf49", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "CXorf49B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXorf49B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "100130361", "url": "https://www.ncbi.nlm.nih.gov/gene/100130361", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "100132994", "url": "https://www.ncbi.nlm.nih.gov/gene/100132994", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "30891", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30891", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "34229", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34229", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR027822", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027822", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:100132994", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:100132994", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A8MYA2", "url": "https://www.nextprot.org/entry/NX_A8MYA2", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A8MYA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MYA2", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NRHEVPK", "url": "https://omabrowser.org/oma/group/NRHEVPK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5266828at2759", "url": "http://www.orthodb.org/?query=5266828at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR31866", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31866", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15483", "url": "http://pfam.xfam.org/family/PF15483", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A8MYA2", "url": "https://pharos.nih.gov/targets/A8MYA2", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A8MYA2", "url": "http://purl.obolibrary.org/obo/PR_A8MYA2", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001138611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138611", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8MYA2", "url": "https://www.uniprot.org/uniprot/A8MYA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MYA2-1", "url": "https://www.uniprot.org/uniprot/A8MYA2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSPDKVSVCGAGFDLEGGKKAGSRTASPGAPGAHSHGLDLGVPGSGDGKSESGFTDPEGFSFESESELIEQGRVVLWGREGRPGTPVDDQGDVVDYSFYLADEPAAIVPPPSVQGHPFPEGAAAEGSAENWADAEVGPSGRDVLGHSPGKWQQASAGRLHLCGPGPVRAWKNPERGSKSRWSLRVDPQQPSAKGPTRLPTHDSDSADESSDLPLMKVGICRNEGSQAKPGSPKKRADTSRQASFHCKESYLPVPGRFLTSAPRGLTPVAERPAVGELEDSPQKKMQSRAWGKVEVRPSCSGAAAAGALPQGLSRRKMAGGKKSLGGASQLALGRGFPACGERLSAAPPEPATFPPFSGVRPQGMSKKPQKPKHSSPGKKPAGRKTRESQAAAREDNDPNRDEVPRAQLPTHRPGLPRLSVRRGEFSSSDPNIRAPQLPGTSEPSAYSPGGLVPRRHAPSGNQQPPVHPPRPERQQQPPGAQGCPRCIWLQREIEDLTQQLAAMQFLTDKFQDL", "length": 514, "header": "sp|A8MYA2-1|CX049_HUMAN Isoform 1 of Uncharacterized protein CXorf49 OS=Homo sapiens OX=9606 GN=CXorf49 PE=2 SV=3 CANONICAL=A8MYA2-1" }, "isoforms": [ { "isoform_ac": "A8MYA2-1", "url": "", "sequence": { "sequence": "MSSPDKVSVCGAGFDLEGGKKAGSRTASPGAPGAHSHGLDLGVPGSGDGKSESGFTDPEGFSFESESELIEQGRVVLWGREGRPGTPVDDQGDVVDYSFYLADEPAAIVPPPSVQGHPFPEGAAAEGSAENWADAEVGPSGRDVLGHSPGKWQQASAGRLHLCGPGPVRAWKNPERGSKSRWSLRVDPQQPSAKGPTRLPTHDSDSADESSDLPLMKVGICRNEGSQAKPGSPKKRADTSRQASFHCKESYLPVPGRFLTSAPRGLTPVAERPAVGELEDSPQKKMQSRAWGKVEVRPSCSGAAAAGALPQGLSRRKMAGGKKSLGGASQLALGRGFPACGERLSAAPPEPATFPPFSGVRPQGMSKKPQKPKHSSPGKKPAGRKTRESQAAAREDNDPNRDEVPRAQLPTHRPGLPRLSVRRGEFSSSDPNIRAPQLPGTSEPSAYSPGGLVPRRHAPSGNQQPPVHPPRPERQQQPPGAQGCPRCIWLQREIEDLTQQLAAMQFLTDKFQDL", "length": 514, "header": "sp|A8MYA2-1|CX049_HUMAN Isoform 1 of Uncharacterized protein CXorf49 OS=Homo sapiens OX=9606 GN=CXorf49 PE=2 SV=3 CANONICAL=A8MYA2-1" }, "locus": { "chromosome": "X", "start_pos": 71718151, "end_pos": 71714655, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535490.3", "url": "https://www.ensembl.org/id/ENST00000535490.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000480355.1", "url": "https://www.ensembl.org/id/ENSP00000480355.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 329, "start_aa": "Ser", "end_pos": 329, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser329", "evidence": [ { "id": "A8MYA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MYA2" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "A8MYA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MYA2" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "pathway": [ { "id": "hsa:100132994", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:100132994", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A1B0GR91-1", "protein_name": "Predicted gene 4779", "gene_name": "Gm4779", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSPDEVSFRGTNWGPESGEHTERRRFAHGFPRGHGPGPGPEEKVCLQVSRPPQYDSWLDREEMDGRSVIWGCEGRPGTPVDDRGDNLDFVQQLAIEGTSFGQHIANREAWGIHGHQSPPSCAAEPISIWGDSDASTLRRSMRPQTSTEGKQVTATQLHPRGPGRGRAWMTPRRSAMSRVVTSDDIQCPSSSPESSDEFSETQMMRVTICLKEGNQPKSAGLTEQEDPARHTNVHGRESFVHVPPSMLASTPRGLGSAIEKQASGELESSSAKKKQTMVWSKEGGRPSHQGATAAAAAAATATASASASASATANATASASASASASATATATASTVAPAPVAVASAGLYKISPRKKPAQEKPSQWDTSRGPVARIFPPWGQRLKSATVEPATFPPISGVALLGKASKCSLPSGPKEFKSVCTGKKSIAKKTREPQAGPKEDNSPRDPGLQAQVPLHRAEQPSVCMHRGEMSSGDSNTRAPQVPANPQFFLIQRCARPRAPPAPAGDQELPLRLPFPVGDRQHQIQAIGGCQQCEMLQKEIDELKEQLAIMQVFKEKFQDP", "length": 561 }, "evidence": [ { "id": "A8MYA2", "url": "https://omabrowser.org/oma/group/A8MYA2/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "A0A8I6ALN5-1", "protein_name": "RCG64283-like", "gene_name": "Cxhxorf49", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSPDEASFRGTNLGPESGEPSERRRFPQGFARGHGLGPEERLLRSREDKMCLPVSKTFPYDSWLDREEMEGRSVIWGCEGRPGTPVDDRGDSLDFVQHLAVEGTSFGQHLANREAWGVHRHPSPQTCAAEPFSIWGDSDASMIRRGTRPLTSTEGKQFTASQLHPRALGRGRAWMTPRRSATSRMITSDDAQYPSSDPESSDEFSEIQMMRVTICLKEGNQPKSTGLTELEDPARHTNVHGRENFVHVPSTLLATTPRGLSSAIEKQASGELESSLSKKKQSMVWGKEGSRPSHQGATAAAAATISASATASTAAPAPVAVASGGFPKTSPRKKPPSEKPSQWDASRGPVGRTFPPWGQRLKSAPVEPATFPPISGVALLGKASKCSLPSGPKECKPFCTGKKFMVKKSRETQAGPKEDNNSPRDPGLQAQVPPHRAEQPSVCMYRGEMSSGDCNTRASQVPGNLQFLSLSQRCPRPRAPAPAGDQEIPLRLPFPVGDRQYPVQGVGGCQQCLMFQKEIDELKEQLAVMQALNEKLQDL", "length": 540 }, "evidence": [ { "id": "A8MYA2", "url": "https://omabrowser.org/oma/group/A8MYA2/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "E9Q4Y8-1", "protein_name": "RIKEN cDNA 8030474K03 gene", "gene_name": "8030474K03Rik", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSLGKAAVPTACDDEDTLLTGDANSQHQVSGSEAGLSQEGRERLGDPVISPGVAEGPSPLQGPLEIREGEASLPGPESSDLGSGSKMEATEDTGSMLRDPEGGATSPVDQEEEVDMDFLPQLSIEAMTVMRELTNLQLRKVCRYPSPRTCAAELAALWGNVDEGSNRGALSPSSVRGKQGPEGALYPRGLGRGRAWGTPRRHTIGRMVSSEGVHYPSSNPVSSDEFSDTHVMKGTAGLKEDQARSSGLTELDNIARHTNVRGRGNFVHIPPSVLSSATWGVSSGMERQASGEQESSLAKKKPNMVWGKEGSRPSHHGVTAAAATASAAAPASASTASGALPKTSPKKKQAQEKTSSSDVSRGYQGKNLPTWGQRLKSAFEGPTTLPPISGVALLGKASKCSLPSGPKEFKSICTGKKSIAKKTREPQAGPKEDNSPRDPGLQAQVPPHRAEQPSVCMYRGEMSRGDFNIRAPQVPANPQFFSLSQRCARPRAPPAPAGEQNQLMDPIFPNEESQQVIHGTPGCAQCEMLQKEIDELKEQLAVMQALSETFQDP", "length": 554 }, "evidence": [ { "id": "45933477", "url": "http://www.informatics.jax.org/homology/45933477", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q3KR64-1", "protein_name": "Uncharacterized protein CXorf49 homolog", "gene_name": "", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSPEEQSVPGDDFNEESTDPNKNLSLVSGPADSNEGEIRLPSPKGSNLPLVSQQDTSEAPSVVLWTGGCWPDSLVSEEERLGSPEDEKMDGLDFLSQPSVETEQQVANPETPGAKEQPSSESFCAETETGSNRRAPQASGSEEAKAASAATFLPKGLEQSRAWVSPRKSTTSRMLISENVHHPPSEPELSEELNEVQMMRVTICLKDGNHGNQAKNSGPAETGDLARHSNVQTRESFMRMPSSLLTTTRGLTSGMERQTSKELEPFSSKKKQGILWGKGGSKSNYAEAAAGVGALPKAGPRKKMTQKKKPLWDASAVTLGKAFHQWGQRLKSAPAEPATFPPISGVGLPGRSNKCSLLPLRPKQCKNFYTGKRSGAKRTKELQLVAKEDTDSTRDPGSQVQFPTCRAEPPCQSVHQEFSSGDINTRSLQDPGNSQSSGLSQRGILSKKSTPSGDQEEPVGPPAPDSEILQLHGTQGCPRCPELQKEIEDLRKQLSALQAVGEKFQTHST", "length": 510 }, "evidence": [ { "id": "45933476", "url": "http://www.informatics.jax.org/homology/45933476", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D454-1", "protein_name": "Uncharacterized protein CXorf49 homolog", "gene_name": "", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGSSEEQSVPGDDFYEESGDLNTGLSLVLRPAKSNEGESSLSSPKGSKLTLVSQLEASENPSVVLWAGEYCPDSLVPEEERVGSPMDEKVVGLDFLSQPSVETTATGQQVTNLETKGAREHPSPESVCAETEAGSIRRAPQASEEAKFAASAGTFFPKGLEQSRSWVTPRKSTTSRMVIGENVHHPTSEPEPLDELNEVQMMRVTICLKDGNHGNQAKNSGPAETGDLARHSNVQTRDSFMRMPSSLLVSTTRGLTSGVERQASKEPEPFSSKKKQGTLWGKGGSKSSYPEAAAGIGALPKASPRKKMAQKKKPLWDASAVTLGRAFHQWGQRLKSAPAEPATFPPISGVGLPGRSNKCSLLPLRPKQCKNLYTGKRSGAKKTKELQLVAKEDTDSTRDPSSQVQFPTHRAEPPCQSVHQEFNSGDINARSLQDAGNSQSSALNQRGIMSKKSVLSGDQEEPVGLPAPDSEILQLPGTQGCPRCPELQKEIEDLRKQLSALQAVSEKFQTHLS", "length": 513 }, "evidence": [ { "id": "45933476", "url": "http://www.informatics.jax.org/homology/45933476", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": {}, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 329 ], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }