{ "uniprot_canonical_ac": "O94875-1", "uniprot_ac": "O94875", "uniprot_id": "SRBS2_HUMAN", "mass": { "chemical_mass": 124108.0, "monoisotopic_mass": 124108.0 }, "refseq": { "ac": "NP_001139142", "name": "sorbin and SH3 domain-containing protein 2 isoform 3", "summary": "Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" }, "gene_names": [ { "name": "SORBS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94875", "id": "O94875" }, { "name": "ARGBP2; PRO0618", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142", "id": "NP_001139142" }, { "name": "ARGBP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94875", "id": "O94875" }, { "name": "KIAA0777", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94875", "id": "O94875" }, { "name": "SORBS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142", "id": "NP_001139142" } ], "protein_names": [ { "name": "Sorbin and SH3 domain-containing protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94875" }, { "name": "Arg binding protein 2; Arg/Abl-interacting protein 2; arg-binding protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142", "id": "NP_001139142" }, { "name": "Arg-binding protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94875" }, { "name": "Arg/Abl-interacting protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94875" }, { "name": "ArgBP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94875" }, { "name": "Sorbin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94875" }, { "name": "sorbin and SH3 domain-containing protein 2 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142", "id": "NP_001139142" } ], "function": [ { "annotation": "Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 (PubMed:18559503). Isoform 6 increases water and sodium absorption in the intestine and gall-bladder.", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875#function" }, { "database": "PubMed", "id": "9211900", "url": "https://glygen.org/publication/PubMed/9211900" }, { "database": "PubMed", "id": "18559503", "url": "https://glygen.org/publication/PubMed/18559503" }, { "database": "PubMed", "id": "12475393", "url": "https://glygen.org/publication/PubMed/12475393" } ] }, { "annotation": "Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" } ] }, { "annotation": "Musk ketone induces apoptosis of gastric cancer cells via downregulation of sorbin and SH3 domain containing 2.", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" }, { "database": "PubMed", "id": "33880576", "url": "https://glygen.org/publication/PubMed/33880576" } ] }, { "annotation": "RNA-binding protein SORBS2 suppresses clear cell renal cell carcinoma metastasis by enhancing MTUS1 mRNA stability. Erratum:[Cell Death Dis. 2021 Nov 8;12(11):1062. PMID: 34750363] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" }, { "database": "PubMed", "id": "33311452", "url": "https://glygen.org/publication/PubMed/33311452" } ] }, { "annotation": "SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" }, { "database": "PubMed", "id": "34099102", "url": "https://glygen.org/publication/PubMed/34099102" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1483779596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483779596" }, { "id": "rs1483779596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483779596#frequency_tab" }, { "id": "rs1483779596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483779596" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 288, "end_pos": 288, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STT->NTT); o-glyco-site-loss (S->N).", "chr_id": "4", "chr_pos": "185626891", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776104385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776104385" }, { "id": "rs776104385", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776104385" }, { "id": "rs776104385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776104385#frequency_tab" }, { "id": "rs776104385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776104385" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1015, "end_pos": 1015, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYS->NYS).", "chr_id": "4", "chr_pos": "185611820", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1374342508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374342508" }, { "id": "rs1374342508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374342508#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1016, "end_pos": 1016, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "4", "chr_pos": "185615053", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760604818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604818" }, { "id": "rs760604818", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604818" }, { "id": "rs760604818", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604818" }, { "id": "rs760604818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760604818#frequency_tab" }, { "id": "rs760604818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760604818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 113, "end_pos": 113, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "4", "chr_pos": "185630574", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1466943540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466943540" }, { "id": "rs1466943540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466943540" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 121, "end_pos": 121, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "4", "chr_pos": "185651802", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs556862627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556862627" }, { "id": "rs556862627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556862627#frequency_tab" }, { "id": "rs556862627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556862627" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "4", "chr_pos": "185657542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" }, { "id": "rs144039952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144039952" }, { "id": "rs144039952", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144039952" }, { "id": "rs144039952", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144039952" }, { "id": "rs144039952", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144039952#frequency_tab" }, { "id": "rs144039952", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144039952" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 155, "end_pos": 155, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "4", "chr_pos": "185649573", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D155", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs372323775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323775" }, { "id": "rs372323775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323775" }, { "id": "rs372323775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372323775" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 158, "end_pos": 158, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "4", "chr_pos": "185649564", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479033966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479033966" }, { "id": "rs1479033966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479033966" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 163, "end_pos": 163, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "4", "chr_pos": "185665933", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" }, { "id": "rs760604818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604818" }, { "id": "rs760604818", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604818" }, { "id": "rs760604818", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604818" }, { "id": "rs760604818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760604818#frequency_tab" }, { "id": "rs760604818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760604818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 237, "end_pos": 237, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "4", "chr_pos": "185630574", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D237", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1344979878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344979878" }, { "id": "rs1344979878", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1344979878#frequency_tab" }, { "id": "rs1344979878", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344979878" }, { "id": "rs750048978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750048978" }, { "id": "rs750048978", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750048978" }, { "id": "rs750048978", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750048978" }, { "id": "rs750048978", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750048978" }, { "id": "rs1321834697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321834697" }, { "id": "rs1321834697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321834697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 271, "end_pos": 271, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "4", "chr_pos": "185626943", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 273, "end_pos": 273, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "4", "chr_pos": "185626936", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S273", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs143318227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143318227" }, { "id": "rs143318227", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143318227" }, { "id": "rs143318227", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143318227" }, { "id": "rs143318227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143318227#frequency_tab" }, { "id": "rs143318227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143318227" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 275, "end_pos": 275, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "4", "chr_pos": "185626930", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001997", "site_lbl": "S275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769506293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769506293" }, { "id": "rs769506293", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769506293" }, { "id": "rs769506293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769506293" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 288, "end_pos": 288, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "4", "chr_pos": "185626892", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1205158691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205158691" }, { "id": "rs1205158691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205158691" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 290, "end_pos": 290, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "4", "chr_pos": "185626886", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs556862627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556862627" }, { "id": "rs556862627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556862627#frequency_tab" }, { "id": "rs556862627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556862627" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 294, "end_pos": 294, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFT->NFT).", "chr_id": "4", "chr_pos": "185657542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469221092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469221092" }, { "id": "rs1469221092", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469221092#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 297, "end_pos": 297, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "4", "chr_pos": "185646720", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1023125188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1023125188" }, { "id": "rs1023125188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1023125188#frequency_tab" }, { "id": "rs1023125188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1023125188" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 328, "end_pos": 328, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "4", "chr_pos": "185646670", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P328", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530561001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530561001" }, { "id": "rs530561001", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530561001" }, { "id": "rs530561001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530561001#frequency_tab" }, { "id": "rs530561001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530561001" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 328, "end_pos": 328, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "4", "chr_pos": "185666121", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P328", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" }, { "id": "rs761261656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761261656" }, { "id": "rs761261656", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761261656" }, { "id": "rs761261656", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761261656" }, { "id": "rs761261656", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761261656#frequency_tab" }, { "id": "rs761261656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761261656" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 32, "end_pos": 32, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "4", "chr_pos": "185662104", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D32", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1207276998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207276998" }, { "id": "rs1207276998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207276998" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 367, "end_pos": 367, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IWS->NWS).", "chr_id": "4", "chr_pos": "185624317", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755706619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755706619" }, { "id": "rs755706619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755706619" }, { "id": "rs755706619", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755706619#frequency_tab" }, { "id": "rs755706619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755706619" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 374, "end_pos": 374, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TVS->NVS).", "chr_id": "4", "chr_pos": "185624296", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398679312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398679312" }, { "id": "rs1398679312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398679312" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 402, "end_pos": 402, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "4", "chr_pos": "185620133", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315030677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315030677" }, { "id": "rs1315030677", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315030677" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 440, "end_pos": 440, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HRS->NRS).", "chr_id": "4", "chr_pos": "185624099", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370846682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370846682" }, { "id": "rs1370846682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370846682" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 45, "end_pos": 45, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "4", "chr_pos": "185657558", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs942348166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs942348166" }, { "id": "rs942348166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs942348166#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 47, "end_pos": 47, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "4", "chr_pos": "185677349", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771002154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771002154" }, { "id": "rs771002154", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771002154" }, { "id": "rs771002154", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771002154" }, { "id": "rs771002154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771002154" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 606, "end_pos": 606, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "4", "chr_pos": "185623601", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315030677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315030677" }, { "id": "rs1315030677", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315030677" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 626, "end_pos": 626, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFS->NFS).", "chr_id": "4", "chr_pos": "185624099", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 712, "end_pos": 712, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "185623282", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S712", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1181992212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181992212" }, { "id": "rs1181992212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181992212#frequency_tab" }, { "id": "rs1181992212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181992212" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 753, "end_pos": 753, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "4", "chr_pos": "185623160", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D753", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" }, { "id": "rs939082630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939082630" }, { "id": "rs939082630", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs939082630" }, { "id": "rs939082630", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939082630" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 756, "end_pos": 756, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "4", "chr_pos": "185623150", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I756", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs891332353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs891332353" }, { "id": "rs891332353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs891332353" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 79, "end_pos": 79, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "4", "chr_pos": "185678443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D79", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94875", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 805, "end_pos": 805, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NDC->NDS).", "chr_id": "4", "chr_pos": "185623004", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C805", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1398679312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398679312" }, { "id": "rs1398679312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398679312" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 841, "end_pos": 841, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYS->NYS).", "chr_id": "4", "chr_pos": "185620133", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S841", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334644236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334644236" }, { "id": "rs1334644236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334644236#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 976, "end_pos": 976, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWY->NWS).", "chr_id": "4", "chr_pos": "185611937", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y976", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "87.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94875" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "common_name": "Human" } ], "gene": [ { "name": "SORBS2", "url": "https://www.uniprot.org/uniprot/O94875", "locus": { "chromosome": "4", "start_pos": 185585444, "end_pos": 185956652, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000154556", "url": "https://www.ensembl.org/id/ENSG00000154556" } ] } } ], "crossref": [ { "id": "ENSG00000154556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154556", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O94875", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94875", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd11917", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11917", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd11920", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11920", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd11923", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11923", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SORBS2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8470", "url": "https://www.ncbi.nlm.nih.gov/gene/8470", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "24098", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24098", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "C9IZ89", "url": "https://www.ebi.ac.uk/intact/interactors/id:C9IZ89*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O94875", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94875*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003127", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003127", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036028", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036028", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8470", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8470", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "616349", "url": "http://www.omim.org/entry/616349", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94875", "url": "https://www.nextprot.org/entry/NX_O94875", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94875", "url": "https://oglcnac.org/atlas/detail/O94875", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "XEDELEL", "url": "https://omabrowser.org/oma/group/XEDELEL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5407056at2759", "url": "http://www.orthodb.org/?query=5407056at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14167", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14167", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14167:SF56", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14167:SF56", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5VEI", "url": "https://www.rcsb.org/structure/5VEI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00018", "url": "http://pfam.xfam.org/family/PF00018", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02208", "url": "http://pfam.xfam.org/family/PF02208", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14604", "url": "http://pfam.xfam.org/family/PF14604", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94875", "url": "https://pharos.nih.gov/targets/O94875", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94875", "url": "http://purl.obolibrary.org/obo/PR_O94875", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1D5RMN3", "url": "https://www.uniprot.org/uniprot/A0A1D5RMN3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1D5RMN3-1", "url": "https://www.uniprot.org/uniprot/A0A1D5RMN3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITL8", "url": "https://www.uniprot.org/uniprot/A0A3B3ITL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITL8-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SHW0", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SHW0-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKF2", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKF2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKF2-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKF2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKH1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKH1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKH1-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKH1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKK4", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKK4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKK4-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKK4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLK0", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLK0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLK0-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLK0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLU7", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLU7-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TLU4", "url": "https://www.uniprot.org/uniprot/A0A8V8TLU4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TLU4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TLU4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMC7", "url": "https://www.uniprot.org/uniprot/A0A8V8TMC7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMC7-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMC7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMD6", "url": "https://www.uniprot.org/uniprot/A0A8V8TMD6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMD6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMD6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNC1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNC1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNC1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNC1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNN1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNN1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PXP6", "url": "https://www.uniprot.org/uniprot/A0A9L9PXP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PXP6-1", "url": "https://www.uniprot.org/uniprot/A0A9L9PXP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZ89", "url": "https://www.uniprot.org/uniprot/C9IZ89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZ89-1", "url": "https://www.uniprot.org/uniprot/C9IZ89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZT7", "url": "https://www.uniprot.org/uniprot/C9IZT7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZT7-1", "url": "https://www.uniprot.org/uniprot/C9IZT7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J348", "url": "https://www.uniprot.org/uniprot/C9J348", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J348-1", "url": "https://www.uniprot.org/uniprot/C9J348-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J372", "url": "https://www.uniprot.org/uniprot/C9J372", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J372-1", "url": "https://www.uniprot.org/uniprot/C9J372-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J3W4", "url": "https://www.uniprot.org/uniprot/C9J3W4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J3W4-1", "url": "https://www.uniprot.org/uniprot/C9J3W4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J4K2", "url": "https://www.uniprot.org/uniprot/C9J4K2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J4K2-1", "url": "https://www.uniprot.org/uniprot/C9J4K2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J4Z9", "url": "https://www.uniprot.org/uniprot/C9J4Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J4Z9-1", "url": "https://www.uniprot.org/uniprot/C9J4Z9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J620", "url": "https://www.uniprot.org/uniprot/C9J620", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J620-1", "url": "https://www.uniprot.org/uniprot/C9J620-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J7Q5", "url": "https://www.uniprot.org/uniprot/C9J7Q5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J7Q5-1", "url": "https://www.uniprot.org/uniprot/C9J7Q5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J8E3", "url": "https://www.uniprot.org/uniprot/C9J8E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J8E3-1", "url": "https://www.uniprot.org/uniprot/C9J8E3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J9D3", "url": "https://www.uniprot.org/uniprot/C9J9D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J9D3-1", "url": "https://www.uniprot.org/uniprot/C9J9D3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JBB0", "url": "https://www.uniprot.org/uniprot/C9JBB0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JBB0-1", "url": "https://www.uniprot.org/uniprot/C9JBB0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JBR8", "url": "https://www.uniprot.org/uniprot/C9JBR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JBR8-1", "url": "https://www.uniprot.org/uniprot/C9JBR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC90", "url": "https://www.uniprot.org/uniprot/C9JC90", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC90-1", "url": "https://www.uniprot.org/uniprot/C9JC90-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDX2", "url": "https://www.uniprot.org/uniprot/C9JDX2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDX2-1", "url": "https://www.uniprot.org/uniprot/C9JDX2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JEA9", "url": "https://www.uniprot.org/uniprot/C9JEA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JEA9-1", "url": "https://www.uniprot.org/uniprot/C9JEA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFS9", "url": "https://www.uniprot.org/uniprot/C9JFS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFS9-1", "url": "https://www.uniprot.org/uniprot/C9JFS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JG84", "url": "https://www.uniprot.org/uniprot/C9JG84", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JG84-1", "url": "https://www.uniprot.org/uniprot/C9JG84-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JI79", "url": "https://www.uniprot.org/uniprot/C9JI79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JI79-1", "url": "https://www.uniprot.org/uniprot/C9JI79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JL62", "url": "https://www.uniprot.org/uniprot/C9JL62", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JL62-1", "url": "https://www.uniprot.org/uniprot/C9JL62-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JLD6", "url": "https://www.uniprot.org/uniprot/C9JLD6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JLD6-1", "url": "https://www.uniprot.org/uniprot/C9JLD6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JM25", "url": "https://www.uniprot.org/uniprot/C9JM25", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JM25-1", "url": "https://www.uniprot.org/uniprot/C9JM25-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JN77", "url": "https://www.uniprot.org/uniprot/C9JN77", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JN77-1", "url": "https://www.uniprot.org/uniprot/C9JN77-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JWC3", "url": "https://www.uniprot.org/uniprot/C9JWC3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JWC3-1", "url": "https://www.uniprot.org/uniprot/C9JWC3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZ60", "url": "https://www.uniprot.org/uniprot/C9JZ60", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZ60-1", "url": "https://www.uniprot.org/uniprot/C9JZ60-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXR3", "url": "https://www.uniprot.org/uniprot/H7BXR3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXR3-1", "url": "https://www.uniprot.org/uniprot/H7BXR3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZK1", "url": "https://www.uniprot.org/uniprot/H7BZK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZK1-1", "url": "https://www.uniprot.org/uniprot/H7BZK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZX1", "url": "https://www.uniprot.org/uniprot/H7BZX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZX1-1", "url": "https://www.uniprot.org/uniprot/H7BZX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1R7", "url": "https://www.uniprot.org/uniprot/H7C1R7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1R7-1", "url": "https://www.uniprot.org/uniprot/H7C1R7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-1", "url": "https://www.uniprot.org/uniprot/O94875-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-10", "url": "https://www.uniprot.org/uniprot/O94875-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-11", "url": "https://www.uniprot.org/uniprot/O94875-11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-12", "url": "https://www.uniprot.org/uniprot/O94875-12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-2", "url": "https://www.uniprot.org/uniprot/O94875-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-3", "url": "https://www.uniprot.org/uniprot/O94875-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-4", "url": "https://www.uniprot.org/uniprot/O94875-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-5", "url": "https://www.uniprot.org/uniprot/O94875-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-6", "url": "https://www.uniprot.org/uniprot/O94875-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-7", "url": "https://www.uniprot.org/uniprot/O94875-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-8", "url": "https://www.uniprot.org/uniprot/O94875-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94875-9", "url": "https://www.uniprot.org/uniprot/O94875-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1100, "header": "sp|O94875-1|SRBS2_HUMAN Isoform 1 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "isoforms": [ { "isoform_ac": "A0A1D5RMN3-1", "url": "", "sequence": { "sequence": "MSYYQRPFS", "length": 9, "header": "tr|A0A1D5RMN3-1|A0A1D5RMN3_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=4 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185662171, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393523.6", "url": "https://www.ensembl.org/id/ENST00000393523.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000377158.2", "url": "https://www.ensembl.org/id/ENSP00000377158.2" } ] } }, { "isoform_ac": "A0A3B3ITL8-1", "url": "", "sequence": { "sequence": "GDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKLASSEPAPPPTHKVSPGSDKGALQGTGQGWLSLTASCLPANPLAPTPPRFLDNFLGELEKLGALTLSADQAKPTILEDAILEIKEEPAVLLPLSPATAPAESPSTHAGVASAAAQPYHAEPLQDPRTTTQSNFAELRKMRRGFSDPKKAPEVLGDNFVASACTSVGSLPVPLPVIGEEDEGIYEGIVSGIQRGPPEPQEGDAWWCGHDGSEGTPHLHIEEEEEEEKPNCLKHPIATPTDPRTPKEDSNAAKPSNEPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 394, "header": "tr|A0A3B3ITL8-1|A0A3B3ITL8_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185611980, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650145.1", "url": "https://www.ensembl.org/id/ENST00000650145.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497845.1", "url": "https://www.ensembl.org/id/ENSP00000497845.1" } ] } }, { "isoform_ac": "A0A8Q3SHW0-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRTDRINPDDIDLENEPWYKFFSELEFGRPPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQD", "length": 787, "header": "tr|A0A8Q3SHW0-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185623614, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695411.1", "url": "https://www.ensembl.org/id/ENST00000695411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511893.1", "url": "https://www.ensembl.org/id/ENSP00000511893.1" } ] } }, { "isoform_ac": "A0A8Q3WKF2-1", "url": "", "sequence": { "sequence": "MKATTPLQTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 492, "header": "tr|A0A8Q3WKF2-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185656638, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490562.6", "url": "https://www.ensembl.org/id/ENST00000490562.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000511889.1", "url": "https://www.ensembl.org/id/ENSP00000511889.1" } ] } }, { "isoform_ac": "A0A8Q3WKH1-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRTDRINPDDIDLENEPWYKFFSELEFGRPPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1200, "header": "tr|A0A8Q3WKH1-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695410.1", "url": "https://www.ensembl.org/id/ENST00000695410.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511891.1", "url": "https://www.ensembl.org/id/ENSP00000511891.1" } ] } }, { "isoform_ac": "A0A8Q3WKK4-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRTDRINPDDIDLENEPWYKFFSELEFGRPPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1300, "header": "tr|A0A8Q3WKK4-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695409.1", "url": "https://www.ensembl.org/id/ENST00000695409.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511888.1", "url": "https://www.ensembl.org/id/ENSP00000511888.1" } ] } }, { "isoform_ac": "A0A8Q3WLK0-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKVTQGSTATPPVS", "length": 319, "header": "tr|A0A8Q3WLK0-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185624423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487184.2", "url": "https://www.ensembl.org/id/ENST00000487184.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000511890.1", "url": "https://www.ensembl.org/id/ENSP00000511890.1" } ] } }, { "isoform_ac": "A0A8Q3WLU7-1", "url": "", "sequence": { "sequence": "MKATTPLQTVDRPKDWYKTMFKQIHMVHKPGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKLASSEPAPPPTHKVSPGSDKGALQGTGQGWLSLTASCLP", "length": 516, "header": "tr|A0A8Q3WLU7-1|A0A8Q3WLU7_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185656638, "end_pos": 185607233, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498125.6", "url": "https://www.ensembl.org/id/ENST00000498125.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000511892.1", "url": "https://www.ensembl.org/id/ENSP00000511892.1" } ] } }, { "isoform_ac": "A0A8V8TLU4-1", "url": "", "sequence": { "sequence": "MYSNEDSRQTIVYSEESNTTMSYTQKITNPLPAASSTDPAPFANINTPVLQEDYRQDSQTRRISTLKLTHNQDLGSSSPISTPQFSKSVEVPSFLKRPRSLTPNPVPETHTASLSIQIAPLSGQDLESHKQLPELSPETAKIPLQQERQKSAVAAASQSSDCRVSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPVTKPQAS", "length": 414, "header": "tr|A0A8V8TLU4-1|A0A8V8TLU4_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185677488, "end_pos": 185646051, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698540.1", "url": "https://www.ensembl.org/id/ENST00000698540.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513785.1", "url": "https://www.ensembl.org/id/ENSP00000513785.1" } ] } }, { "isoform_ac": "A0A8V8TMC7-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQLGNQNLPASVLEVNASQTHRQTTPEASPPCPPSVVPLNRATFSPGSGTSSASLSLPPPDGVGSSRLHNPQSLSHCLYKHLLPAPESLIHSHDTGSLTTDSSLAEHSSRSESESSTAMLEELQIGDSDTTGRSETPSPTWGQRSAVTDGTTLTTPAATHSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRTDRINPDDIDLENEPWYKFFSELEFGRPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 898, "header": "tr|A0A8V8TMC7-1|A0A8V8TMC7_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698843.1", "url": "https://www.ensembl.org/id/ENST00000698843.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513979.1", "url": "https://www.ensembl.org/id/ENSP00000513979.1" } ] } }, { "isoform_ac": "A0A8V8TMD6-1", "url": "", "sequence": { "sequence": "XRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKILVLMLSLKRKETLLRVQCTGNFYQCFSSKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 296, "header": "tr|A0A8V8TMD6-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185620151, "end_pos": 185587629, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698537.1", "url": "https://www.ensembl.org/id/ENST00000698537.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513783.1", "url": "https://www.ensembl.org/id/ENSP00000513783.1" } ] } }, { "isoform_ac": "A0A8V8TNC1-1", "url": "", "sequence": { "sequence": "XRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKADVKSEICVLGKPPRSPVMSRRFCGSPVRGLSGSHRPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 302, "header": "tr|A0A8V8TNC1-1|A0A8V8TNC1_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185620151, "end_pos": 185587629, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698536.1", "url": "https://www.ensembl.org/id/ENST00000698536.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513782.1", "url": "https://www.ensembl.org/id/ENSP00000513782.1" } ] } }, { "isoform_ac": "A0A8V8TNN1-1", "url": "", "sequence": { "sequence": "MKATTPLQTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPVTKPQAS", "length": 154, "header": "tr|A0A8V8TNN1-1|A0A8V8TNN1_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185656638, "end_pos": 185646051, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698539.1", "url": "https://www.ensembl.org/id/ENST00000698539.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513784.1", "url": "https://www.ensembl.org/id/ENSP00000513784.1" } ] } }, { "isoform_ac": "A0A9L9PXP6-1", "url": "", "sequence": { "sequence": "MYSNEDSRQTIVYSEESNTTMSYTQKITNPLPAASSTDPAPFANINTPVLQEDYRQDSQTRRISTLKLTHNQDLGSSSPISTPQFSKSVEVPSFLKRPRSLTPNPVPETHTASLSIQIAPLSGQDLESHKQLPELSPETAKIPLQQERQKSAVAAASQSSDCRVSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 752, "header": "tr|A0A9L9PXP6-1|A0A9L9PXP6_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185677488, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706921.1", "url": "https://www.ensembl.org/id/ENST00000706921.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516628.1", "url": "https://www.ensembl.org/id/ENSP00000516628.1" } ] } }, { "isoform_ac": "C9IZ89-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKT", "length": 100, "header": "tr|C9IZ89-1|C9IZ89_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185652696, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445343.5", "url": "https://www.ensembl.org/id/ENST00000445343.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399048.1", "url": "https://www.ensembl.org/id/ENSP00000399048.1" } ] } }, { "isoform_ac": "C9IZT7-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQ", "length": 71, "header": "tr|C9IZT7-1|C9IZT7_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185678423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452351.5", "url": "https://www.ensembl.org/id/ENST00000452351.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000412447.1", "url": "https://www.ensembl.org/id/ENSP00000412447.1" } ] } }, { "isoform_ac": "C9J348-1", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYP", "length": 119, "header": "tr|C9J348-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185657472, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430503.5", "url": "https://www.ensembl.org/id/ENST00000430503.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405349.1", "url": "https://www.ensembl.org/id/ENSP00000405349.1" } ] } }, { "isoform_ac": "C9J372-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGG", "length": 96, "header": "tr|C9J372-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185662210, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457934.5", "url": "https://www.ensembl.org/id/ENST00000457934.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405314.1", "url": "https://www.ensembl.org/id/ENSP00000405314.1" } ] } }, { "isoform_ac": "C9J3W4-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRT", "length": 89, "header": "tr|C9J3W4-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185657424, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444771.5", "url": "https://www.ensembl.org/id/ENST00000444771.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410483.1", "url": "https://www.ensembl.org/id/ENSP00000410483.1" } ] } }, { "isoform_ac": "C9J4K2-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSE", "length": 59, "header": "tr|C9J4K2-1|C9J4K2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185657514, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457247.5", "url": "https://www.ensembl.org/id/ENST00000457247.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398335.1", "url": "https://www.ensembl.org/id/ENSP00000398335.1" } ] } }, { "isoform_ac": "C9J4Z9-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRP", "length": 107, "header": "tr|C9J4Z9-1|C9J4Z9_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185662177, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420158.5", "url": "https://www.ensembl.org/id/ENST00000420158.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410233.1", "url": "https://www.ensembl.org/id/ENSP00000410233.1" } ] } }, { "isoform_ac": "C9J620-1", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQH", "length": 109, "header": "tr|C9J620-1|C9J620_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185657571, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451958.5", "url": "https://www.ensembl.org/id/ENST00000451958.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405092.1", "url": "https://www.ensembl.org/id/ENSP00000405092.1" } ] } }, { "isoform_ac": "C9J7Q5-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIK", "length": 68, "header": "tr|C9J7Q5-1|C9J7Q5_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185657487, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445115.5", "url": "https://www.ensembl.org/id/ENST00000445115.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397664.1", "url": "https://www.ensembl.org/id/ENSP00000397664.1" } ] } }, { "isoform_ac": "C9J8E3-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLY", "length": 55, "header": "tr|C9J8E3-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=8 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185657526, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456596.5", "url": "https://www.ensembl.org/id/ENST00000456596.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410967.1", "url": "https://www.ensembl.org/id/ENSP00000410967.1" } ] } }, { "isoform_ac": "C9J9D3-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAV", "length": 75, "header": "tr|C9J9D3-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185662204, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421639.5", "url": "https://www.ensembl.org/id/ENST00000421639.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405646.1", "url": "https://www.ensembl.org/id/ENSP00000405646.1" } ] } }, { "isoform_ac": "C9JBB0-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNS", "length": 80, "header": "tr|C9JBB0-1|C9JBB0_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185662216, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431902.5", "url": "https://www.ensembl.org/id/ENST00000431902.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405432.1", "url": "https://www.ensembl.org/id/ENSP00000405432.1" } ] } }, { "isoform_ac": "C9JBR8-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYP", "length": 73, "header": "tr|C9JBR8-1|C9JBR8_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185657472, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450341.5", "url": "https://www.ensembl.org/id/ENST00000450341.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415680.1", "url": "https://www.ensembl.org/id/ENSP00000415680.1" } ] } }, { "isoform_ac": "C9JC90-1", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSI", "length": 121, "header": "tr|C9JC90-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185657535, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425679.5", "url": "https://www.ensembl.org/id/ENST00000425679.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415637.1", "url": "https://www.ensembl.org/id/ENSP00000415637.1" } ] } }, { "isoform_ac": "C9JDX2-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTS", "length": 116, "header": "tr|C9JDX2-1|C9JDX2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185662108, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414724.5", "url": "https://www.ensembl.org/id/ENST00000414724.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403417.1", "url": "https://www.ensembl.org/id/ENSP00000403417.1" } ] } }, { "isoform_ac": "C9JEA9-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTY", "length": 100, "header": "tr|C9JEA9-1|C9JEA9_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185657580, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444781.5", "url": "https://www.ensembl.org/id/ENST00000444781.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396183.1", "url": "https://www.ensembl.org/id/ENSP00000396183.1" } ] } }, { "isoform_ac": "C9JFS9-1", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSS", "length": 120, "header": "tr|C9JFS9-1|C9JFS9_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185657538, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439049.5", "url": "https://www.ensembl.org/id/ENST00000439049.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416464.1", "url": "https://www.ensembl.org/id/ENSP00000416464.1" } ] } }, { "isoform_ac": "C9JG84-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAKGFRSVRPNLQDKRSPTQLGNQNLPASVLEVNASQTHRQTTPEASPPCPPSVVPLNRATFSPGSGTSSASLSLP", "length": 118, "header": "tr|C9JG84-1|C9JG84_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185666039, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451701.5", "url": "https://www.ensembl.org/id/ENST00000451701.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404430.1", "url": "https://www.ensembl.org/id/ENSP00000404430.1" } ] } }, { "isoform_ac": "C9JI79-1", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPT", "length": 70, "header": "tr|C9JI79-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185678426, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429056.5", "url": "https://www.ensembl.org/id/ENST00000429056.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390162.1", "url": "https://www.ensembl.org/id/ENSP00000390162.1" } ] } }, { "isoform_ac": "C9JL62-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDR", "length": 93, "header": "tr|C9JL62-1|C9JL62_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185652717, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439914.5", "url": "https://www.ensembl.org/id/ENST00000439914.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408909.1", "url": "https://www.ensembl.org/id/ENSP00000408909.1" } ] } }, { "isoform_ac": "C9JLD6-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAM", "length": 15, "header": "tr|C9JLD6-1|C9JLD6_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185684812, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456060.5", "url": "https://www.ensembl.org/id/ENST00000456060.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389829.1", "url": "https://www.ensembl.org/id/ENSP00000389829.1" } ] } }, { "isoform_ac": "C9JM25-1", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQLGNQNLPASVLEVNASQTHRQTTPEASPPCP", "length": 85, "header": "tr|C9JM25-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185666114, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428330.5", "url": "https://www.ensembl.org/id/ENST00000428330.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402328.1", "url": "https://www.ensembl.org/id/ENSP00000402328.1" } ] } }, { "isoform_ac": "C9JN77-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAY", "length": 113, "header": "tr|C9JN77-1|C9JN77_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185662159, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419063.5", "url": "https://www.ensembl.org/id/ENST00000419063.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408504.1", "url": "https://www.ensembl.org/id/ENSP00000408504.1" } ] } }, { "isoform_ac": "C9JWC3-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQAPPPPERKESFHSSLITSHTKGVILDQLVTNTQIPSSTEYFANKKPLQGTMYSNEDSRQTIVYSEESNTTMSYTQKITNPLPAASSTDPAPFANINTPVLQEDYRQDSQTRRISTLKLTHNQDLGSSSPISTPQFSKSVEVPSFLKRPRSLTPNPVPETHTASLSIQIAPLSGQDLESHKQLPELSPETAKIPLQQERQKSAVAAASQSSDCRVLGNQNLPASVLEVNASQTHRQTTPEASPPCPPSVVPLNRATFSPGSGTSSASLSLPPPDGVGSSRLHNPQSLSHCLYKHLLPAPESLIHSHDTGSLTTDSSLAEHSSRSESESSTAMLEELQIGDSDTTGRSETPSPTWGQRSAVTDGTTLTTPAATHSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1572, "header": "tr|C9JWC3-1|C9JWC3_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=2 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421420.6", "url": "https://www.ensembl.org/id/ENST00000421420.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000393258.2", "url": "https://www.ensembl.org/id/ENSP00000393258.2" } ] } }, { "isoform_ac": "C9JZ60-1", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQ", "length": 87, "header": "tr|C9JZ60-1|C9JZ60_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185662237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432655.5", "url": "https://www.ensembl.org/id/ENST00000432655.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407006.1", "url": "https://www.ensembl.org/id/ENSP00000407006.1" } ] } }, { "isoform_ac": "H7BXR3-1", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEP", "length": 636, "header": "tr|H7BXR3-1|H7BXR3_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185593885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319454.10", "url": "https://www.ensembl.org/id/ENST00000319454.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000321983.6", "url": "https://www.ensembl.org/id/ENSP00000321983.6" } ] } }, { "isoform_ac": "H7BZK1-1", "url": "", "sequence": { "sequence": "XSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDF", "length": 291, "header": "tr|H7BZK1-1|SRBS2_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185657520, "end_pos": 185618602, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438278.5", "url": "https://www.ensembl.org/id/ENST00000438278.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389995.1", "url": "https://www.ensembl.org/id/ENSP00000389995.1" } ] } }, { "isoform_ac": "H7BZX1-1", "url": "", "sequence": { "sequence": "XQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAK", "length": 253, "header": "tr|H7BZX1-1|H7BZX1_HUMAN Computationally mapped isoform of Sorbin and SH3 domain containing 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185652688, "end_pos": 185626832, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445625.1", "url": "https://www.ensembl.org/id/ENST00000445625.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391940.1", "url": "https://www.ensembl.org/id/ENSP00000391940.1" } ] } }, { "isoform_ac": "H7C1R7-1", "url": "", "sequence": { "sequence": "QTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGE", "length": 291, "header": "tr|H7C1R7-1|H7C1R7_HUMAN Computationally mapped isoform of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=1 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451974.5", "url": "https://www.ensembl.org/id/ENST00000451974.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401818.1", "url": "https://www.ensembl.org/id/ENSP00000401818.1" } ] } }, { "isoform_ac": "O94875-1", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1100, "header": "sp|O94875-1|SRBS2_HUMAN Isoform 1 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185662197, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000284776.11", "url": "https://www.ensembl.org/id/ENST00000284776.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000284776.7", "url": "https://www.ensembl.org/id/ENSP00000284776.7" } ] } }, { "isoform_ac": "O94875-10", "url": "", "sequence": { "sequence": "MYSNEDSRQTIVYSEESNTTMSYTQKITNPLPAASSTDPAPFANINTPVLQEDYRQDSQTRRISTLKLTHNQDLGSSSPISTPQFSKSVEVPSFLKRPRSLTPNPVPETHTASLSIQIAPLSGQDLESHKQLPELSPETAKIPLQQERQKSAVAAASQSSDCRVSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 824, "header": "sp|O94875-10|SRBS2_HUMAN Isoform 10 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185677488, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437304.6", "url": "https://www.ensembl.org/id/ENST00000437304.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000396008.2", "url": "https://www.ensembl.org/id/ENSP00000396008.2" } ] } }, { "isoform_ac": "O94875-11", "url": "", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1200, "header": "sp|O94875-11|SRBS2_HUMAN Isoform 11 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355634.9", "url": "https://www.ensembl.org/id/ENST00000355634.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000347852.5", "url": "https://www.ensembl.org/id/ENSP00000347852.5" } ] } }, { "isoform_ac": "O94875-12", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 731, "header": "sp|O94875-12|SRBS2_HUMAN Isoform 12 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319471.13", "url": "https://www.ensembl.org/id/ENST00000319471.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000322182.9", "url": "https://www.ensembl.org/id/ENSP00000322182.9" } ] } }, { "isoform_ac": "O94875-2", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPTDRINPDDIDLENEPWYKFFSELEFGRPPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 666, "header": "sp|O94875-2|SRBS2_HUMAN Isoform 2 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185690571, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393528.7", "url": "https://www.ensembl.org/id/ENST00000393528.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377162.3", "url": "https://www.ensembl.org/id/ENSP00000377162.3" } ] } }, { "isoform_ac": "O94875-3", "url": "", "sequence": { "sequence": "MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 645, "header": "sp|O94875-3|SRBS2_HUMAN Isoform 3 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": {} }, { "isoform_ac": "O94875-4", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 691, "header": "sp|O94875-4|SRBS2_HUMAN Isoform 4 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": {} }, { "isoform_ac": "O94875-5", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPLPTTPTPVPREPGRKPLSSSRLGEVTGSPSPPPRSGAPTPSSRAPALSPTRPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALGYTLT", "length": 645, "header": "sp|O94875-5|SRBS2_HUMAN Isoform 5 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": {} }, { "isoform_ac": "O94875-6", "url": "", "sequence": { "sequence": "MKATTPLQTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPVSKPQAGRR", "length": 156, "header": "sp|O94875-6|SRBS2_HUMAN Isoform 6 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": {} }, { "isoform_ac": "O94875-7", "url": "", "sequence": { "sequence": "MKATTPLQTVDRPKDWYKTMFKQIHMVHKPGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1004, "header": "sp|O94875-7|SRBS2_HUMAN Isoform 7 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185656638, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487836.6", "url": "https://www.ensembl.org/id/ENST00000487836.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000511887.1", "url": "https://www.ensembl.org/id/ENSP00000511887.1" } ] } }, { "isoform_ac": "O94875-8", "url": "", "sequence": { "sequence": "MNTGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPPPKKPLDYVQDHSSGVFNEASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 661, "header": "sp|O94875-8|SRBS2_HUMAN Isoform 8 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": {} }, { "isoform_ac": "O94875-9", "url": "", "sequence": { "sequence": "MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 644, "header": "sp|O94875-9|SRBS2_HUMAN Isoform 9 of Sorbin and SH3 domain-containing protein 2 OS=Homo sapiens OX=9606 GN=SORBS2 PE=1 SV=3 CANONICAL=O94875-1" }, "locus": { "chromosome": "4", "start_pos": 185684814, "end_pos": 185587630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449407.6", "url": "https://www.ensembl.org/id/ENST00000449407.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397262.2", "url": "https://www.ensembl.org/id/ENSP00000397262.2" } ] } } ], "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": 288, "start_aa": "Ser", "end_pos": 288, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser288", "evidence": [ { "id": "O94875", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94875" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 290, "start_aa": "Thr", "end_pos": 290, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr290", "evidence": [ { "id": "O94875", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94875" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" } ] } ], "phosphorylation": [ { "start_pos": 1015, "end_pos": 1015, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser1015" }, { "start_pos": 1017, "end_pos": 1017, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser1017" }, { "start_pos": 1018, "end_pos": 1018, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser1018" }, { "start_pos": 1023, "end_pos": 1023, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "site_lbl": "Ser1023" }, { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Tyr13" }, { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser14" }, { "start_pos": 154, "end_pos": 154, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser154" }, { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser157" }, { "start_pos": 165, "end_pos": 165, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser165" }, { "start_pos": 166, "end_pos": 166, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser166" }, { "start_pos": 211, "end_pos": 211, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ], "site_lbl": "Ser211" }, { "start_pos": 230, "end_pos": 230, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser230" }, { "start_pos": 234, "end_pos": 234, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser234" }, { "start_pos": 236, "end_pos": 236, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ile", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ile236" }, { "start_pos": 239, "end_pos": 239, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "site_lbl": "Ser239" }, { "start_pos": 245, "end_pos": 245, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser245" }, { "start_pos": 248, "end_pos": 248, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser248" }, { "start_pos": 258, "end_pos": 258, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Lys", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Lys258" }, { "start_pos": 259, "end_pos": 259, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser259" }, { "start_pos": 260, "end_pos": 260, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Glu", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Glu260" }, { "start_pos": 273, "end_pos": 273, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser273" }, { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr277" }, { "start_pos": 278, "end_pos": 278, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser278" }, { "start_pos": 27, "end_pos": 27, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "His", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "His27" }, { "start_pos": 280, "end_pos": 280, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Gly", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Gly280" }, { "start_pos": 282, "end_pos": 282, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Val", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Val282" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "site_lbl": "Ser287" }, { "start_pos": 28, "end_pos": 28, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Gly", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Gly28" }, { "start_pos": 292, "end_pos": 292, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "site_lbl": "Thr292" }, { "start_pos": 295, "end_pos": 295, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Phe", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Phe295" }, { "start_pos": 297, "end_pos": 297, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser297" }, { "start_pos": 298, "end_pos": 298, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser298" }, { "start_pos": 299, "end_pos": 299, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser299" }, { "start_pos": 301, "end_pos": 301, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser301" }, { "start_pos": 302, "end_pos": 302, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ], "site_lbl": "Ser302" }, { "start_pos": 304, "end_pos": 304, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "site_lbl": "Ser304" }, { "start_pos": 306, "end_pos": 306, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ala", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ala306" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser30" }, { "start_pos": 311, "end_pos": 311, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Asp", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Asp311" }, { "start_pos": 316, "end_pos": 316, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Pro", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Pro316" }, { "start_pos": 320, "end_pos": 320, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser320" }, { "start_pos": 322, "end_pos": 322, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser322" }, { "start_pos": 326, "end_pos": 326, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Gly", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Gly326" }, { "start_pos": 341, "end_pos": 341, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "His", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "His341" }, { "start_pos": 344, "end_pos": 344, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Val", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Val344" }, { "start_pos": 346, "end_pos": 346, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Arg", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Arg346" }, { "start_pos": 366, "end_pos": 366, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Glu", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Glu366" }, { "start_pos": 381, "end_pos": 381, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser381" }, { "start_pos": 383, "end_pos": 383, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser383" }, { "start_pos": 413, "end_pos": 413, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Asp", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Asp413" }, { "start_pos": 415, "end_pos": 415, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Lys", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Lys415" }, { "start_pos": 437, "end_pos": 437, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Arg", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Arg437" }, { "start_pos": 439, "end_pos": 439, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Arg", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Arg439" }, { "start_pos": 43, "end_pos": 43, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser43" }, { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ile", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ile459" }, { "start_pos": 474, "end_pos": 474, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Lys", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Lys474" }, { "start_pos": 494, "end_pos": 494, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser494" }, { "start_pos": 497, "end_pos": 497, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser497" }, { "start_pos": 550, "end_pos": 550, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser550" }, { "start_pos": 733, "end_pos": 733, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser733" }, { "start_pos": 750, "end_pos": 750, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "site_lbl": "Ser750" }, { "start_pos": 838, "end_pos": 838, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser838" }, { "start_pos": 843, "end_pos": 843, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "site_lbl": "Ser843" }, { "start_pos": 915, "end_pos": 915, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser915" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Coding region of the sorbin gene in different species.", "journal": "Peptides", "date": "2001", "authors": "Wahbi K, Magaud JP, Pansu D, Descroix-Vagne M", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "11786189", "url": "https://glygen.org/publication/PubMed/11786189" } ] }, { "title": "Cbl-ArgBP2 complex mediates ubiquitination and degradation of c-Abl.", "journal": "The Biochemical journal", "date": "2003", "authors": "Soubeyran P, Barac A, Szymkiewicz I, Dikic I", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "12475393", "url": "https://glygen.org/publication/PubMed/12475393" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "ArgBP2gamma interacts with Akt and p21-activated kinase-1 and promotes cell survival.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Yuan Zeng-qiang, Kim Donghwa, Kaneko Satoshi, Sussman Melissa, Bokoch Gary M, Kruh Gary D, Nicosia Santo V, Testa Joseph R, Cheng Jin Q", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "15784622", "url": "https://glygen.org/publication/PubMed/15784622" } ] }, { "title": "Involvement of palladin and alpha-actinin in targeting of the Abl/Arg kinase adaptor ArgBP2 to the actin cytoskeleton.", "journal": "Exp. Cell Res.", "date": "2005", "authors": "R\u00f6nty Mikko, Taivainen Anu, Moza Monica, Kruh Gary D, Ehler Elisabeth, Carpen Olli", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "16125169", "url": "https://glygen.org/publication/PubMed/16125169" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "ArgBP2-dependent signaling regulates pancreatic cell migration, adhesion, and tumorigenicity.", "journal": "Cancer research", "date": "2008", "authors": "Taieb D, Roignot J, Andre F, Garcia S, Masson B, Pierres A, Iovanna JL, Soubeyran P", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "18559503", "url": "https://glygen.org/publication/PubMed/18559503" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O94875-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "iPTMnet", "id": "O94875", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94875" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "ArgBP2gamma interacts with Akt and p21-activated kinase-1 and promotes cell survival.", "journal": "J. Biol. Chem.", "date": "2016", "authors": "Yuan Zeng-Qiang, Kim Donghwa, Kaneko Satoshi, Sussman Melissa, Bokoch Gary M, Kruh Gary D, Nicosia Santo V, Testa Joseph R, Cheng Jin Q", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "27825083", "url": "https://glygen.org/publication/PubMed/27825083" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O94875", "url": "https://oglcnac.org/atlas/detail/O94875" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "LncRNA KCNQ1OT1 affects cell proliferation, apoptosis and fibrosis through regulating miR-18b-5p/SORBS2 axis and NF-kB pathway in diabetic nephropathy.", "journal": "Diabetology & metabolic syndrome", "date": "2020", "authors": "Jie R, Zhu P, Zhong J, Zhang Y, Wu H", "evidence": [ { "database": "GlyGen", "id": "A0375", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "32905431", "url": "https://glygen.org/publication/PubMed/32905431" } ] }, { "title": "RNA-binding protein SORBS2 suppresses clear cell renal cell carcinoma metastasis by enhancing MTUS1 mRNA stability.", "journal": "Cell death & disease", "date": "2020", "authors": "Lv Q, Dong F, Zhou Y, Cai Z, Wang G", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" }, { "database": "GlyGen", "id": "A0375", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "33311452", "url": "https://glygen.org/publication/PubMed/33311452" } ] }, { "title": "Musk ketone induces apoptosis of gastric cancer cells via downregulation of sorbin and SH3 domain containing 2.", "journal": "Molecular medicine reports", "date": "2021", "authors": "An J, Wang H, Ma X, Hu B, Yan Y, Yan Y, Su Z", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" } ], "reference": [ { "type": "PubMed", "id": "33880576", "url": "https://glygen.org/publication/PubMed/33880576" } ] }, { "title": "SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.", "journal": "eLife", "date": "2021", "authors": "Liang F, Wang B, Geng J, You G, Fa J, Zhang M, Sun H, Chen H, Fu Q, Zhang X, Zhang Z", "evidence": [ { "database": "RefSeq", "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142" } ], "reference": [ { "type": "PubMed", "id": "34099102", "url": "https://glygen.org/publication/PubMed/34099102" } ] }, { "title": "ArgBP2, a multiple Src homology 3 domain-containing, Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed cells and localized in stress fibers and cardiocyte Z-disks.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wang B, Golemis EA, Kruh GD", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "reference": [ { "type": "PubMed", "id": "9211900", "url": "https://glygen.org/publication/PubMed/9211900" } ] } ], "pathway": [ { "id": "hsa:8470", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8470", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O35413-1", "protein_name": "Sorbin and SH3 domain-containing protein 2", "gene_name": "Sorbs2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRESHSPDSAWRSYNGRNPETLNGDATYSSLAAKGFRSVRPNLQDKKSPTQSHITINGNSGGAVSPVSYYQRPFSPSAYSLPASLNSSIIMPHGRSLDSAETYSQHAQSLDGTMGSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDEDTDMYNTPYTYNAGLYNSPYSAQSHPAAKTQTYRPLSKSHSDNGTDAFKEATSPVPPPHVPPRPRDQSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPVSVYQSSIDRSLERPSSSASMAGDFRKRRKSEPAVGPPRGLGDHSSSRTSPGRADLPGSSSTFTTSFISSSPSSPSRAQGGDDSKMCPPLCSYSGLNGSPSSELECCGAYRRHLDVPQDSQRAITFKNGWQMARQNAEIWSSTEEAVSPKIKSRSCDDLLNDDCGSFPDPKTKSESMGSLLCDEGSKESDPMTWTSPYIPEVCGNSRSRLKHRSAHNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYEKEQQHRGLLHGWSQSSTEEVPRDVVPTRISEFEKLIQKSKSMPNLGDEMLSPVTLEPPQNGLCPKRRFSIESLLEEETQVRHPSQGQRSCKSNTLVPIHIEVTSDEQPRTHMEFSDSDQDGVVSDHSDNVHVERSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHGHFISSCKGRCPASYTRFTTMLKHERAKHENIDRPRRQDMDPGLSKLAFLVSPVPFRRKKVLTPQKQTEQAKCKASVVEALDSALKDICDQIKAEKRRGSLPDNSILHRLISELLPQIPKRNSSLNALKRSPMHQPFHPLPQDGAIHCPLYQNDCGRMPHSASFPDVDTTSSYHAQDYGSVLSLQDHESPRSYSSTLTDLGRSVSRERRGTPEKEVKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPVQPGEIGEAIAKYNFNADTNVELSLRKGDRIILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKRNTKGSEDYPDPPLPHSYSSDRIYSLSSNKPQRPVFSHENIQGGGEPFQALYNYTPRNEDELELRESDVVDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1196 }, "evidence": [ { "id": "45921160", "url": "http://www.informatics.jax.org/homology/45921160", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q3UTJ2-1", "protein_name": "Sorbin and SH3 domain-containing protein 2", "gene_name": "Sorbs2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRESQSPDSAWRSYNDRNPETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITINGNSGGAVSPVSYYQRPFSPSAYSLPASLNSSIIMQHGRSLDSAETYSQHAQSLDGTMGSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPGLYNSPYSAQSHPAAKTQTYRPLSKSHSDNGTDAFKEVPSPVPPPHVPPRPRDQSSTLKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPVSIYQSSIDRSLERPSSSASMAGDFRKRRKSEPAVGPLRGLGDQSSSRTSPGRADLPGSSSTFTKSFISSSPSSPSRAQGGDDSKMCPPLCSYSGLNGTPSGELECCNAYRQHLDVPGDSQRAITFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKTKSESMGSLLCEEDSKESCPMTWASPYIQEVCGNSRSRLKHRSAHNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYEKEQQHRGLLHGWSQSSTEEVPRDVVPTRISEFEKLIQKSKSMPNLGDEMLSPITLEPPQNGLCPKRRFSIESLLEEETQVRHPSQGQRSCKSNTLVPIHIEVTSDEQPRTHMEFSDSDQDGVVSDHSDYVHVEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERAKHENMDRPRRQEMDPGLSKLAFLVSPVPFRRKKILTPQKQTEKAKCKASVVEALDSALKDICDQIKAEKRRGSLPDNSILHRLISELLPQIPERNSSLHALKRSPMHQPFHPLPPDGASHCPLYQNDCGRMPHSASFPDVDTTSNYHAQDYGSALSLQDHESPRSYSSTLTDLGRSASRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPVQPGEIGEAIAKYNFNADTNVELSLRKGDRIILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKRNAKGAEDYPDPPLPHSYSSDRIYTLSSNKPQRPGFSHENIQGGGEPFQALYNYTPRNEDELELRESDVVDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL", "length": 1180 }, "evidence": [ { "id": "45921160", "url": "http://www.informatics.jax.org/homology/45921160", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1051, "end_pos": 1053, "annotation": "n_glycosylation_sequon" }, { "start_pos": 20, "end_pos": 22, "annotation": "n_glycosylation_sequon" }, { "start_pos": 559, "end_pos": 561, "annotation": "n_glycosylation_sequon" }, { "start_pos": 772, "end_pos": 774, "annotation": "n_glycosylation_sequon" }, { "start_pos": 821, "end_pos": 823, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Dephosphorylated by PTPN12.", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "18559503", "url": "https://glygen.org/publication/PubMed/18559503" } ] }, { "annotation": "Ubiquitinated by CBL.", "evidence": [ { "database": "UniProtKB", "id": "O94875", "url": "https://www.uniprot.org/uniprot/O94875" }, { "database": "PubMed", "id": "12475393", "url": "https://glygen.org/publication/PubMed/12475393" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Sorbin and SH3 domain-containing protein 2 (SORBS2)", "biomarker_id": "A0375", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "33311452", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33311452" }, { "id": "32905431", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32905431" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "decreased SORBS2 level", "disease": { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] }, "tissue": { "name": "kidney", "namespace": "UBERON", "id": "0002113", "url": "http://purl.obolibrary.org/obo/UBERON_0002113" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "33311452", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33311452" }, { "id": "32905431", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32905431" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 288, 290 ], "snv_sites": [ 32, 45, 47, 79, 113, 121, 150, 155, 158, 163, 237, 271, 273, 275, 288, 290, 294, 297, 328, 367, 374, 402, 440, 606, 626, 712, 753, 756, 805, 841, 976, 1015, 1016 ], "glycation_sites": [], "phosphorylation_sites": [ 13, 14, 27, 28, 30, 43, 154, 157, 165, 166, 211, 230, 234, 236, 239, 245, 248, 258, 259, 260, 273, 277, 278, 280, 282, 287, 292, 295, 297, 298, 299, 301, 302, 304, 306, 311, 316, 320, 322, 326, 341, 344, 346, 366, 381, 383, 413, 415, 437, 439, 459, 474, 494, 497, 550, 733, 750, 838, 843, 915, 1015, 1017, 1018, 1023 ], "sequon_annotation_sites": [ { "start_pos": 1051, "end_pos": 1053 }, { "start_pos": 20, "end_pos": 22 }, { "start_pos": 559, "end_pos": 561 }, { "start_pos": 772, "end_pos": 774 }, { "start_pos": 821, "end_pos": 823 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "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": 64 }, { "field": "total_sites", "count": 64 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 33 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 26 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 22 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }