{ "uniprot_canonical_ac": "O94851-7", "uniprot_ac": "O94851", "uniprot_id": "MICA2_HUMAN", "mass": { "chemical_mass": 219061.0, "monoisotopic_mass": 219061.0 }, "refseq": { "ac": "NP_001269592", "name": "[F-actin]-monooxygenase MICAL2 isoform a", "summary": "The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, "gene_names": [ { "name": "MICAL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94851", "id": "O94851" }, { "name": "Ebitein1; MICAL-2; mical-cL; MICAL2PV1; MICAL2PV2; MICALCL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592", "id": "NP_001269592" }, { "name": "KIAA0750", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94851", "id": "O94851" }, { "name": "MICAL2PV1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94851", "id": "O94851" }, { "name": "MICAL2PV2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94851", "id": "O94851" }, { "name": "MICAL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592", "id": "NP_001269592" }, { "name": "MICALCL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94851", "id": "O94851" } ], "protein_names": [ { "name": "[F-actin]-monooxygenase MICAL2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94851" }, { "name": "1.14.13.225", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94851" }, { "name": "MICAL C-terminal-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94851" }, { "name": "MICAL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94851" }, { "name": "Mical-cL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94851" }, { "name": "Molecule interacting with CasL protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94851" }, { "name": "[F-actin]-monooxygenase MICAL2 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592", "id": "NP_001269592" }, { "name": "flavoprotein oxidoreductase MICAL2; molecule interacting with CasL protein 2; protein-methionine sulfoxide oxidase MICAL2; microtubule associated monoxygenase, calponin and LIM domain containing 2; [F-actin]-methionine sulfoxide oxidase MICAL2; [F-actin]-monooxygenase MICAL2; MICAL C-terminal like; ebitein-1; ERK2-binding testicular protein 1; MICAL C-terminal-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592", "id": "NP_001269592" } ], "function": [ { "annotation": "Although MICAL1 is auto-inhibited by its C-terminal coiled-coil region, MICAL2 remains constitutively active and affects stress fibers, suggesting differential but complementary roles for MICAL1 and MICAL2 in actin microfilament regulation", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "22331357", "url": "https://glygen.org/publication/PubMed/22331357" } ] }, { "annotation": "MICAL2 Contributes to Gastric Cancer Cell Proliferation by Promoting YAP Dephosphorylation and Nuclear Translocation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "34650666", "url": "https://glygen.org/publication/PubMed/34650666" } ] }, { "annotation": "MICAL2 contributes to gastric cancer cell migration via Cdc42-dependent activation of E-cadherin/beta-catenin signaling pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "36064550", "url": "https://glygen.org/publication/PubMed/36064550" } ] }, { "annotation": "MICAL2 enhances branched actin network disassembly by oxidizing Arp3B-containing Arp2/3 complexes.", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "34106209", "url": "https://glygen.org/publication/PubMed/34106209" } ] }, { "annotation": "MICAL2-PV is likely to be involved in cancer progression of prostate cancer and could be a candidate as a novel molecular marker and/or target for treatment of prostate cancers.", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "16675569", "url": "https://glygen.org/publication/PubMed/16675569" } ] }, { "annotation": "MICAL2PV suppresses the formation of tunneling nanotubes and modulates mitochondrial trafficking.", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "34096155", "url": "https://glygen.org/publication/PubMed/34096155" } ] }, { "annotation": "Methionine monooxygenase that promotes depolymerization of F-actin by mediating oxidation of residues 'Met-44' and 'Met-47' on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:24440334, PubMed:29343822). Regulates the disassembly of branched actin networks also by oxidizing ARP3B-containing ARP2/3 complexes leading to ARP3B dissociation from the network (PubMed:34106209). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promote SRF:MKL1/MRTF-A-dependent gene transcription. Does not activate SRF:MKL1/MRTF-A through RhoA (PubMed:24440334).", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851#function" }, { "database": "PubMed", "id": "24440334", "url": "https://glygen.org/publication/PubMed/24440334" }, { "database": "PubMed", "id": "34106209", "url": "https://glygen.org/publication/PubMed/34106209" }, { "database": "PubMed", "id": "29343822", "url": "https://glygen.org/publication/PubMed/29343822" } ] }, { "annotation": "The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ] }, { "annotation": "These data show that SRF/MRTF-A signaling is regulated by MICAL-2-dependent redox regulation of nuclear actin.", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" }, { "database": "PubMed", "id": "24440334", "url": "https://glygen.org/publication/PubMed/24440334" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs762964386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762964386" }, { "id": "rs762964386", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs762964386" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1248, "end_pos": 1248, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWR->NWT).", "chr_id": "11", "chr_pos": "12287147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768864025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768864025" }, { "id": "rs768864025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768864025" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1254, "end_pos": 1254, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "11", "chr_pos": "12292143", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304604138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304604138" }, { "id": "rs1304604138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304604138#frequency_tab" }, { "id": "rs1304604138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304604138" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1292, "end_pos": 1292, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "11", "chr_pos": "12292257", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756589312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756589312" }, { "id": "rs756589312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756589312" }, { "id": "rs756589312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756589312#frequency_tab" }, { "id": "rs756589312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756589312" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1299, "end_pos": 1299, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "11", "chr_pos": "12292277", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774632330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774632330" }, { "id": "rs774632330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774632330" }, { "id": "rs774632330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774632330#frequency_tab" }, { "id": "rs774632330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774632330" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1400, "end_pos": 1400, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "11", "chr_pos": "12293843", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341600872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341600872" }, { "id": "rs1341600872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341600872" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1402, "end_pos": 1402, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SWT->NWT).", "chr_id": "11", "chr_pos": "12293850", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761654112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761654112" }, { "id": "rs761654112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761654112" }, { "id": "rs761654112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761654112#frequency_tab" }, { "id": "rs761654112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761654112" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1526, "end_pos": 1526, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "11", "chr_pos": "12294221", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1526", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1248974606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248974606" }, { "id": "rs1248974606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1248974606#frequency_tab" }, { "id": "rs1248974606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248974606" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1539, "end_pos": 1539, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAI->NAS).", "chr_id": "11", "chr_pos": "12294261", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1539", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs534987047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534987047" }, { "id": "rs534987047", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534987047" }, { "id": "rs534987047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534987047" }, { "id": "rs534987047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534987047" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1571, "end_pos": 1571, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TRS->NRS).", "chr_id": "11", "chr_pos": "12294357", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T1571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393016675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393016675" }, { "id": "rs1393016675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393016675#frequency_tab" }, { "id": "rs1393016675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393016675" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1710, "end_pos": 1710, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "11", "chr_pos": "12294775", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1710", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339702920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339702920" }, { "id": "rs1339702920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339702920" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1711, "end_pos": 1711, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "11", "chr_pos": "12294777", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1711", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774653429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774653429" }, { "id": "rs774653429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774653429" }, { "id": "rs774653429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774653429" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1743, "end_pos": 1743, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "11", "chr_pos": "12319710", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1743", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1009752703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009752703" }, { "id": "rs1009752703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1009752703" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1862, "end_pos": 1862, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKL->NKS).", "chr_id": "11", "chr_pos": "12349907", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779756193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779756193" }, { "id": "rs779756193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779756193" }, { "id": "rs779756193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779756193" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1955, "end_pos": 1955, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "11", "chr_pos": "12358469", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1955", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762628697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762628697" }, { "id": "rs762628697", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762628697" }, { "id": "rs762628697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762628697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 197, "end_pos": 197, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQK->NQT).", "chr_id": "11", "chr_pos": "12209497", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755514679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755514679" }, { "id": "rs755514679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755514679" }, { "id": "rs755514679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755514679#frequency_tab" }, { "id": "rs755514679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755514679" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 250, "end_pos": 250, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "11", "chr_pos": "12213312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I250", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370512519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370512519" }, { "id": "rs1370512519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370512519" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 331, "end_pos": 331, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "11", "chr_pos": "12220244", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752263245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752263245" }, { "id": "rs752263245", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752263245" }, { "id": "rs752263245", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752263245#frequency_tab" }, { "id": "rs752263245", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752263245" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 431, "end_pos": 431, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQG->NQS).", "chr_id": "11", "chr_pos": "12221728", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1302260646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302260646" }, { "id": "rs1302260646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1302260646#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 457, "end_pos": 457, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "11", "chr_pos": "12222664", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756251780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756251780" }, { "id": "rs756251780", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756251780" }, { "id": "rs756251780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756251780" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 475, "end_pos": 475, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "11", "chr_pos": "12222718", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1227677074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1227677074" }, { "id": "rs1227677074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1227677074" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 513, "end_pos": 513, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "11", "chr_pos": "12223500", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757968579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757968579" }, { "id": "rs757968579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757968579" }, { "id": "rs757968579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757968579#frequency_tab" }, { "id": "rs757968579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757968579" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 540, "end_pos": 540, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "11", "chr_pos": "12224750", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1565226501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565226501" }, { "id": "rs1565226501", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565226501" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 733, "end_pos": 733, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "11", "chr_pos": "12239568", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760026959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760026959" }, { "id": "rs760026959", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760026959" }, { "id": "rs760026959", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760026959" }, { "id": "rs760026959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760026959" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 930, "end_pos": 930, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "11", "chr_pos": "12249189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K930", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 677, "end_pos": 681, "sequence_org": "KRRRK", "sequence_mut": "AAAAA", "comment": "In MICAL-2NLSMut; abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "PubMed", "id": "24440334", "url": "https://glygen.org/publication/PubMed/24440334" } ] }, { "start_pos": 95, "end_pos": 95, "sequence_org": "G", "sequence_mut": "V", "comment": "Blocks FAD binding and abolishes catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "PubMed", "id": "24440334", "url": "https://glygen.org/publication/PubMed/24440334" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.93", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "O94851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94851" } ], "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": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "common_name": "Human" } ], "gene": [ { "name": "MICAL2", "url": "https://www.uniprot.org/uniprot/O94851", "locus": { "chromosome": "11", "start_pos": 12359144, "end_pos": 12094008, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000133816", "url": "https://www.ensembl.org/id/ENSG00000133816" } ] } } ], "crossref": [ { "id": "ENSG00000133816", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133816", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd09439", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09439", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd21195", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21195", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "MICAL2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9645", "url": "https://www.ncbi.nlm.nih.gov/gene/9645", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "24693", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24693", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O94851", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94851*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001715", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001715", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001781", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001781", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002938", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002938", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016103", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016103", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022735", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022735", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036188", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036188", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "608881", "url": "http://www.omim.org/entry/608881", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94851", "url": "https://www.nextprot.org/entry/NX_O94851", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94851", "url": "https://oglcnac.org/atlas/detail/O94851", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O94851", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94851", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CEHEQSG", "url": "https://omabrowser.org/oma/group/CEHEQSG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5399346at2759", "url": "http://www.orthodb.org/?query=5399346at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23167", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23167", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23167:SF39", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23167:SF39", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2E9K", "url": "https://www.rcsb.org/structure/2E9K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5SZH", "url": "https://www.rcsb.org/structure/5SZH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5SZI", "url": "https://www.rcsb.org/structure/5SZI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5SZJ", "url": "https://www.rcsb.org/structure/5SZJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5SZK", "url": "https://www.rcsb.org/structure/5SZK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00307", "url": "http://pfam.xfam.org/family/PF00307", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00412", "url": "http://pfam.xfam.org/family/PF00412", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01494", "url": "http://pfam.xfam.org/family/PF01494", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12130", "url": "http://pfam.xfam.org/family/PF12130", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94851", "url": "https://pharos.nih.gov/targets/O94851", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94851", "url": "http://purl.obolibrary.org/obo/PR_O94851", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "51308", "url": "https://www.rhea-db.org/rhea/51308", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-1", "url": "https://www.uniprot.org/uniprot/O94851-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-2", "url": "https://www.uniprot.org/uniprot/O94851-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-3", "url": "https://www.uniprot.org/uniprot/O94851-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-4", "url": "https://www.uniprot.org/uniprot/O94851-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-5", "url": "https://www.uniprot.org/uniprot/O94851-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-6", "url": "https://www.uniprot.org/uniprot/O94851-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94851-7", "url": "https://www.uniprot.org/uniprot/O94851-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQERRVSGIGKPVLCSSSGPPVHSCCPKPEEATPSPSPPLKRQFPSVVVTGHVLRELKQVSAGSECLSRPWRARAKSDLQLGGTENFATLPSTRPRAQALSGVLWRLQQVEEKILQKRAQNLANREFHTKNIKEKAAHLASMFGHGDFPQNKLLSKGLSHTHPPSPPSRLPSPDPAASSSPSTVDSASPARKEKKSPSGFHFHPSHLRTVHPQLTVGKVSSGIGAAAEVLVNLYMNDHRPKAQATSPDLESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPDEPTSPKRPKSISEPQHSDAEGDAASPLPSEWTSVRISPGEEAAGQDVLAVRVLVTSEDSSSDTESDYGGSEGSHTEPCEEKPWRPGSPHLPHTSLGEALSRAVSPQCPEEPRAVHAALQRANSFQSPTPSKYQNWRREFWWSLTPVNKRTMSPPKDPSPSLPLPSSSSHSSSPPSSSSTSVSGNAPDGSSPPQMTASEPLSQVSRGHPSPPTPNFRRRAVAQGAPREIPLYLPHHPKPEWAEYCLVSPGEDGLSDPAEMTSDECQPAEAPLGDIGSNHRDPHPIWGKDRSWTGQELSPLAGEDREKGSTGARKEEEGGPVLVKEKLGLKKLVLTQEQKTMLLDWNDSIPESVHLKAGERISQKSAENGRGGRVLKPVRPLLLPRAAGEPLPTQRGAQEKMGTPAEQAQGERNVPPPKSPLRLIANAIRRSLEPLLSNSEGGKKAWAKQESKTLPAQACTRSFSLRKTNSNKDGDQHSPGRNQSSAFSPPDPALRTHSLPNRPSKVFPALRSPPCSKIEDVPTLLEKVSLQENFPDASKPPKKRISLFSSLRLKDKSFESFLQESRQRKDIRDLFGSPKRKVLPEDSAQALEKLLQPFKSTSLRQAAPPPPPPPPPPPPPPTAGGADSKNFPLRAQVTEASSSASSTSSSSADEEFDPQLSLQLKEKKTLRRRKKLEKAMKQLVKQEELKRLYKAQAIQRQLEEVEERQRASEIQGVRLEKALRGEADSGTQDEAQLLQEWFKLVLEKNKLMRYESELLIMAQELELEDHQSRLEQKLREKMLKEESQKDEKDLNEEQEVFTELMQVIEQRDKLVDSLEEQRIREKAEDQHFESFVFSRGCQLSRT", "length": 1957, "header": "sp|O94851-7|MICA2_HUMAN Isoform 7 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "isoforms": [ { "isoform_ac": "O94851-1", "url": "", "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQERRVSGIGKPVLCSSSGPPVHSCCPKPEEATPSPSPPLKRQFPSVVVTGHVLRELKQVSAGSECLSRPWRARAKSDLQLGGTENFATLPSTRPRAQALSGVLWRLQQVEEKILQKRAQNLANREFHTKNIKEKAAHLASMFGHGDFPQNKLLSKGLSHTHPPSPPSRLPSPDPAASSSPSTVDSASPARKEKKSPSGFHFHPSHLRTVHPQLTVGKVSSGIGAAAEVLVNLYMNDHRPKAQATSPDLESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPVHFSLPVLHPLLG", "length": 1124, "header": "sp|O94851-1|MICA2_HUMAN Isoform 1 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": { "chromosome": "11", "start_pos": 12262517, "end_pos": 12162156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000256194.8", "url": "https://www.ensembl.org/id/ENST00000256194.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000256194.4", "url": "https://www.ensembl.org/id/ENSP00000256194.4" } ] } }, { "isoform_ac": "O94851-2", "url": "", "sequence": { "sequence": "MLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPGISTSFFRKVLGWPLRLPRDLCNWMQGLLQAAGLHIRDNAYNYCYMYELLSLGLPLLWAFSEVLAAMYRESEGSLESICNWVLRCFPVKLR", "length": 784, "header": "sp|O94851-2|MICA2_HUMAN Isoform 2 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": {} }, { "isoform_ac": "O94851-3", "url": "", "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQERRVSGIGKPVLCSSSGPPVHSCCPKPEEATPSPSPPLKRQFPSVVVTGHVLRELKQVSAGSECLSRPWRARAKSDLQLGGTENFATLPSTRPRAQALSGVLWRLQQVEEKILQKRAQNLANREFHTKNIKEKAAHLASMFGHGDFPQNKLLSKGLSHTHPPSPPSRLPSPDPAASSSPSTVDSASPARKLTVGKVSSGIGAAAEVLVNLYMNDHRPKAQATSPDLESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPVHFSLPVLHPLLG", "length": 1103, "header": "sp|O94851-3|MICA2_HUMAN Isoform 3 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": { "chromosome": "11", "start_pos": 12262517, "end_pos": 12162156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675839.1", "url": "https://www.ensembl.org/id/ENST00000675839.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502351.1", "url": "https://www.ensembl.org/id/ENSP00000502351.1" } ] } }, { "isoform_ac": "O94851-4", "url": "", "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQEKKSPSGFHFHPSHLRTVHPQESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPGISTSFFRKVLGWPLRLPRDLCNWMQGLLQAAGLHIRDNAYNYCYMYELLSLGLPLLWAFSEVLAAMYRESEGSLESICNWVLRCFPVKLR", "length": 976, "header": "sp|O94851-4|MICA2_HUMAN Isoform 4 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": { "chromosome": "11", "start_pos": 12260169, "end_pos": 12162156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707072.1", "url": "https://www.ensembl.org/id/ENST00000707072.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516723.1", "url": "https://www.ensembl.org/id/ENSP00000516723.1" } ] } }, { "isoform_ac": "O94851-5", "url": "", "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQEKKSPSGFHFHPSHLRTVHPQLTVGKVSSGIGAAAEVLVNLYMNDHRPKAQATSPDLESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPVHFSLPVLHPLLG", "length": 934, "header": "sp|O94851-5|MICA2_HUMAN Isoform 5 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": { "chromosome": "11", "start_pos": 12262517, "end_pos": 12162156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527546.5", "url": "https://www.ensembl.org/id/ENST00000527546.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433965.1", "url": "https://www.ensembl.org/id/ENSP00000433965.1" } ] } }, { "isoform_ac": "O94851-6", "url": "", "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPGISTSFFRKVLGWPLRLPRDLCNWMQGLLQAAGLHIRDNAYNYCYMYELLSLGLPLLWAFSEVLAAMYRESEGSLESICNWVLRCFPVKLR", "length": 955, "header": "sp|O94851-6|MICA2_HUMAN Isoform 6 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": { "chromosome": "11", "start_pos": 12260169, "end_pos": 12162156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528931.5", "url": "https://www.ensembl.org/id/ENST00000528931.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000499778.1", "url": "https://www.ensembl.org/id/ENSP00000499778.1" } ] } }, { "isoform_ac": "O94851-7", "url": "", "sequence": { "sequence": "MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQERRVSGIGKPVLCSSSGPPVHSCCPKPEEATPSPSPPLKRQFPSVVVTGHVLRELKQVSAGSECLSRPWRARAKSDLQLGGTENFATLPSTRPRAQALSGVLWRLQQVEEKILQKRAQNLANREFHTKNIKEKAAHLASMFGHGDFPQNKLLSKGLSHTHPPSPPSRLPSPDPAASSSPSTVDSASPARKEKKSPSGFHFHPSHLRTVHPQLTVGKVSSGIGAAAEVLVNLYMNDHRPKAQATSPDLESMRKSFPLNLGGSDTCYFCKKRVYVMERLSAEGHFFHRECFRCSICATTLRLAAYTFDCDEGKFYCKPHFIHCKTNSKQRKRRAELKQQREEEATWQEQEAPRRDTPTESSCAVAAIGTLEGSPPDEPTSPKRPKSISEPQHSDAEGDAASPLPSEWTSVRISPGEEAAGQDVLAVRVLVTSEDSSSDTESDYGGSEGSHTEPCEEKPWRPGSPHLPHTSLGEALSRAVSPQCPEEPRAVHAALQRANSFQSPTPSKYQNWRREFWWSLTPVNKRTMSPPKDPSPSLPLPSSSSHSSSPPSSSSTSVSGNAPDGSSPPQMTASEPLSQVSRGHPSPPTPNFRRRAVAQGAPREIPLYLPHHPKPEWAEYCLVSPGEDGLSDPAEMTSDECQPAEAPLGDIGSNHRDPHPIWGKDRSWTGQELSPLAGEDREKGSTGARKEEEGGPVLVKEKLGLKKLVLTQEQKTMLLDWNDSIPESVHLKAGERISQKSAENGRGGRVLKPVRPLLLPRAAGEPLPTQRGAQEKMGTPAEQAQGERNVPPPKSPLRLIANAIRRSLEPLLSNSEGGKKAWAKQESKTLPAQACTRSFSLRKTNSNKDGDQHSPGRNQSSAFSPPDPALRTHSLPNRPSKVFPALRSPPCSKIEDVPTLLEKVSLQENFPDASKPPKKRISLFSSLRLKDKSFESFLQESRQRKDIRDLFGSPKRKVLPEDSAQALEKLLQPFKSTSLRQAAPPPPPPPPPPPPPPTAGGADSKNFPLRAQVTEASSSASSTSSSSADEEFDPQLSLQLKEKKTLRRRKKLEKAMKQLVKQEELKRLYKAQAIQRQLEEVEERQRASEIQGVRLEKALRGEADSGTQDEAQLLQEWFKLVLEKNKLMRYESELLIMAQELELEDHQSRLEQKLREKMLKEESQKDEKDLNEEQEVFTELMQVIEQRDKLVDSLEEQRIREKAEDQHFESFVFSRGCQLSRT", "length": 1957, "header": "sp|O94851-7|MICA2_HUMAN Isoform 7 of [F-actin]-monooxygenase MICAL2 OS=Homo sapiens OX=9606 GN=MICAL2 PE=1 SV=2 CANONICAL=O94851-7" }, "locus": { "chromosome": "11", "start_pos": 12358476, "end_pos": 12162156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646065.1", "url": "https://www.ensembl.org/id/ENST00000646065.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494982.1", "url": "https://www.ensembl.org/id/ENSP00000494982.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 717, "start_aa": "Ser", "end_pos": 717, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser717", "evidence": [ { "id": "O94851", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94851" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "O94851", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94851" } ] } ], "phosphorylation": [ { "start_pos": 1688, "end_pos": 1688, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "site_lbl": "Ser1688" }, { "start_pos": 631, "end_pos": 631, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94851", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94851" } ], "site_lbl": "Ser631" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "MICALs, a family of conserved flavoprotein oxidoreductases, function in plexin-mediated axonal repulsion.", "journal": "Cell", "date": "2002", "authors": "Terman JR, Mao T, Pasterkamp RJ, Yu HH, Kolodkin AL", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "reference": [ { "type": "PubMed", "id": "12110185", "url": "https://glygen.org/publication/PubMed/12110185" } ] }, { "title": "The MICAL proteins and rab1: a possible link to the cytoskeleton?", "journal": "Biochem. Biophys. Res. Commun.", "date": "2005", "authors": "Fischer J, Weide T, Barnekow A", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "reference": [ { "type": "PubMed", "id": "15694364", "url": "https://glygen.org/publication/PubMed/15694364" } ] }, { "title": "Expression of novel molecules, MICAL2-PV (MICAL2 prostate cancer variants), increases with high Gleason score and prostate cancer progression.", "journal": "Clin. Cancer Res.", "date": "2006", "authors": "Ashida S, Furihata M, Katagiri T, Tamura K, Anazawa Y, Yoshioka H, Miki T, Fujioka T, Shuin T, Nakamura Y, Nakagawa H", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "16675569", "url": "https://glygen.org/publication/PubMed/16675569" } ] }, { "title": "Differential regulation of actin microfilaments by human MICAL proteins.", "journal": "Journal of cell science", "date": "2012", "authors": "Giridharan SS, Rohn JL, Naslavsky N, Caplan S", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "22331357", "url": "https://glygen.org/publication/PubMed/22331357" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "iPTMnet", "id": "O94851", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94851" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Redox modification of nuclear actin by MICAL-2 regulates SRF signaling.", "journal": "Cell", "date": "2014", "authors": "Lundquist MR, Storaska AJ, Liu TC, Larsen SD, Evans T, Neubig RR, Jaffrey SR", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "24440334", "url": "https://glygen.org/publication/PubMed/24440334" } ] }, { "title": "bMERB domains are bivalent Rab8 family effectors evolved by gene duplication.", "journal": "Elife", "date": "2016", "authors": "Rai A, Oprisko A, Campos J, Fu Y, Friese T, Itzen A, Goody RS, Gazdag EM, Muller MP", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "reference": [ { "type": "PubMed", "id": "27552051", "url": "https://glygen.org/publication/PubMed/27552051" } ] }, { "title": "The MICALs are a Family of F-actin Dismantling Oxidoreductases Conserved from Drosophila to Humans.", "journal": "Scientific reports", "date": "2018", "authors": "Wu H, Yesilyurt HG, Yoon J, Terman JR", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "reference": [ { "type": "PubMed", "id": "29343822", "url": "https://glygen.org/publication/PubMed/29343822" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94851", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94851" }, { "database": "O-GlcNAc Atlas", "id": "O94851", "url": "https://oglcnac.org/atlas/detail/O94851" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "MICAL2PV suppresses the formation of tunneling nanotubes and modulates mitochondrial trafficking.", "journal": "EMBO reports", "date": "2021", "authors": "Wang F, Chen X, Cheng H, Song L, Liu J, Caplan S, Zhu L, Wu JY", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "34096155", "url": "https://glygen.org/publication/PubMed/34096155" } ] }, { "title": "MICAL2 enhances branched actin network disassembly by oxidizing Arp3B-containing Arp2/3 complexes.", "journal": "The Journal of cell biology", "date": "2021", "authors": "Galloni C, Carra D, Abella JVG, Kjaer S, Singaravelu P, Barry DJ, Kogata N, Guerin C, Blanchoin L, Way M", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" }, { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "34106209", "url": "https://glygen.org/publication/PubMed/34106209" } ] }, { "title": "MICAL2 Contributes to Gastric Cancer Cell Proliferation by Promoting YAP Dephosphorylation and Nuclear Translocation.", "journal": "Oxidative medicine and cellular longevity", "date": "2021", "authors": "Qi C, Min P, Wang Q, Wang Y, Song Y, Zhang Y, Bibi M, Du J", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "34650666", "url": "https://glygen.org/publication/PubMed/34650666" } ] }, { "title": "MICAL2 contributes to gastric cancer cell migration via Cdc42-dependent activation of E-cadherin/beta-catenin signaling pathway.", "journal": "Cell communication and signaling : CCS", "date": "2022", "authors": "Wang Q, Qi C, Min P, Wang Y, Ye F, Xia T, Zhang Y, Du J", "evidence": [ { "database": "RefSeq", "id": "NP_001269592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269592" } ], "reference": [ { "type": "PubMed", "id": "36064550", "url": "https://glygen.org/publication/PubMed/36064550" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94851", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94851" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "D4A1F2-3", "protein_name": "[F-actin]-monooxygenase MICAL2", "gene_name": "Mical2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGENEDEKQAQASQVFENFVQATTCKGTLQAFNILTCLLDLDPLDHRNFYTQLKSKVNTWKAKALWHKLDKRGSHKEYKRGKACSNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDTFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVRVREPPKDQENRKIGWRAEFLPADHALSNFEFDVIIGADGHRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDSTHYFVMTAKKQSLLDKGVILNDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAINHNGQPDVAMFDFTSMYASENAALMRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWDQGTPPLEVLAERESLYRLLPQTTPENINKNFEQYTLDPATRYPNLNVHCVRPHQVKHLYITKEMDRFPLERWGSVRRSASLSRRESDIRPNKLLTWCQQQTKGYQHVRVTDLTTSWRSGLALCAIIHSFRPELINFDSLNENDVVENNQLAFDVAKREFGILPVTTGKEMASTQEPDKLSMVMYLSKFYELFRGTPLRPMDSRRKNYGENADFGLGKTFFQNNYLNLTLPRKRTPRVDAQTEENDVNKRRRQGFNNLEELPAFSSRSLGSSQEYAKESGNQNKVKYMANQLLAKFEENTRNPSALKQDCPRVSGMGKPVLCSASRPPGTSHCPKLEESTPRLPPPLKRQFSSTVATGQVLRELNQVPASGECPGRPWRARAKSDLQLGGAENLATLPPTCQGALALSGVLRRLQQVEEKVLQKRAQNLANREFHTKNIKEKAAHLASMFGHGDLPQDKLLSKRVPHAHPPSPPSCLPSPDPAAAPSPPAADSVSPARKVLTVGKVSSGIGAAAEVLVNLYLNDHRPKTQATSPDLESLRKAEFPLSLGGRDTCYFCKKRVYVMERLSAEGHFFHRECFRCSVCAAILRVAAYAFDCDEGKFYCKLHFAHCKTSSKQRKRRAELNQQREEEGTWPEQEAARRDVPAESSCAVAAISTPEGSPPDEPISPKKSKSVPKPNSRPMEVEATSPRPSEWTSVRIGPGQDGQDVLAVRVLVTSEDSSSDTESDSGSIIGPCTEACEERPRLPESPPLSQPLTRHISLRETLTQPVSLLLHHKEPQAVPGLQRAYSLQSPSKYQNWRRKFQSNSTPMNQRALSPPKEPPPSSSSSSPSLPSSFSSASVPGHTTDDSSSPQVTYNLHSPQISRDDVSPTPIYLRRARAQGITKEIPLYLPHSPMLESTEHCLVSPDGEELRSPEEISASDGCQKALALGNSESTHKDSYPVSGKDPYLPNQMLALGAAGNTGDLSEESRMGQTGGAELSKERKLGLKKLVLTEEQKTMLLDWNDYTQEHKAGERLAQEKAENGRGNSLKPICSSTLSQAVKEKLLSQKKALGETRTPAAKAPREREVPPPKSPLRLIANAIFRSLLPSSEAGKKTSSKPETKTLPRGQPHAFTRSFSFRKLGSSKDGDQQSPGRHMAKKASAFFSLASPTSKAAQASDLSPPNPILRSRSLPNRPSKMFFATTSLPPSSKVEDVPTLLEKVSLQDAAQGPKKGASHISPLGLKDKSFESFLQECKERKDIGDFFNSPKEKGPPGNRVPSLEKLVQPVDSTSMGQVAHPSSTGQDAQAAVRTQAGKEGSSLVSSLVLVSGPGAPVTEDTSSPTSSSAEEDVETQLSSRLKEKIPRRRRKLEKQMAKQEELKRLHKAQAIQRQLEEVEERQRTSEIQGVRLEKVLRGETADSGTQDEAQLLQEWFKLVLEKNKLMRYESELLIMAQELELEDHQSRLEQKLRQKMLKDEGQKDENDLKEEQEIFEEMMQVIEQRNKLVDSLEEQRIKERTQDQHFENFVLSRGCQLSRT", "length": 1948 }, "evidence": [ { "id": "45923190", "url": "http://www.informatics.jax.org/homology/45923190", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BML1-4", "protein_name": "[F-actin]-monooxygenase MICAL2", "gene_name": "Mical2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGENEDEKQAQASQVFENFVQATTCKGTLQAFNILTCLLDLDPLDHRNFYSQLKSKVNTWKAKALWHKLDKRGSHKEYKRGKACSNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDTFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEVHVNVEFVRVLEPPEDQENQKVGWRAEFLPADHALSDFEFDVIIGADGHRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDSTHYFVMTAKKQSLLDKGVILNDYIDTEMLLCSENVNQDNLLSYAREAADFATNYQLPSLDFAINHNGQPDVAMFDFTSMYASENAALMRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWDQGTPPLEVLAERESLYRLLPQTTPENINKNFEQYTLDPATRYPNLNLHCVRPHQVKHLYITKEMDRFPLERWGSVRRSVSLSRRESDIRPNKLLTWCQQQTKGYQHVRVTDLTTSWRSGLALCAIIHSFRPELINFDSLNEDDAVENNQLAFDVAKREFGILPVTTGKEMASTQEPDKLSMVMYLSKFYELFRGTPLRPMDSWRKNYGENADFGLGKTFIQNNYLNLTLPRKRTPRVDTQTEENDMNKRRRQGFNHLEELPSFSSRSLGSSQEYAKESGSQNKVKHMANQLLAKFEENTRNPSVVKQDCRRVSGIGKPVLCSASRPPGTSCCPKLEESTPRLPPPLKRQFSSTVATGQVLRELNQVPASGECPSRPWRARAKSDLQLGGVENLATLPRTCQGALALSGVLRRLQQVEEKVLQKRAQNLANREFHTKNIKEKAAHLASMFGHGDLPQDKLLSKRVPHAHPPSPPSCLPSPHPAAASSPPAADSVSPARKVVALNHRLPPPLHLTVGKVSSGIGAAAEVLVNLYLNDHRPKTQATSPDLESPRKAFPLSLGGRDTCYFCKKRVYMIERLSAEGHFFHQECFRCSVCSATLRLAAYAFDCDEGKFYCKPHFVHCKTSSKQRKRRAELNQQREEEGTWQEQEAPRRDVPTESSCAVAAISTPEGSPPDEPISPKKPKSVPEPNPRDVEAEATSPRPSEWTSVRISPGEDTVRQDVLAVRVLVTSEDSSSDTESDYGSITAPCAGAYEERPQLPESPPLSKPLTRHISLRENLTQPVSLLHEEPQALPALQRAHSLQSPTPSKYQNWRRRFQSNSTPMNQRAPSPPKEPPPPPSLSSSSSLPSSFSSASVPGHTADDSSSPQVTYNLHSPQISRGDVSPTPIYLRRARAQGIVKEIPLYLPHSPMLESTEDCLVEPGRESLRSPEEISSSEGCQEARALGNTRSIQHPILGKDQYLPNQNLALGAAGNPGDPREESRMGQPGGPELSKERKLGLKKLVLTEEQKNKLLDWSDCTQEHKTGEQLSQESAENIRGGSLKPTCSSTLSQAVKEKLLSQKKALGGMRTPAVKAPQEREVPPPKSPLKLIANAILRSLLHNSEAGKKTSPKPESKTLPRGQPHARSFSLRKLGSSKDGDQQSPGRHMAKKASAFFSLASPTSKVAQASDLSLPNSILRSRSLPSRPSKMFFSTTPHSKVEDVPTLLEKVSLQDATHSPKTGASHISSLGLKDKSFESFLQECKQRKDIGDFFNSPKEEGPPGNRVPSLEKLVQPVGSTSMGQVAHPSSTGQDARKLEGGEGGSSLVSSLVLVSDPVAPVTEATSSPTSSSAEEEADSQLSLRIKEKILRRRRKLEKQSAKQEELKRLHKAQAIQRQLEEVEERQRTLAIQGVKLEKVLRGEAADSGTQDEAQLLQEWFKLVLEKNKLMRYESELLIMAQELELEDHQSRLEQKLRQKMLKDEGQKDENDLKEEQEIFEEMMQVIEQRNKLVDSLEEQRVKERTQDQHFENFVLSRGCQLSRT", "length": 1951 }, "evidence": [ { "id": "45923190", "url": "http://www.informatics.jax.org/homology/45923190", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen", "id": "GO:0016709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016709", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "NAD(P)H oxidase H2O2-forming activity", "id": "GO:0016174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016174", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "sulfur oxidation", "id": "GO:0019417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019417", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "O94851", "url": "https://www.uniprot.org/uniprot/O94851" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1457, "end_pos": 1459, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1593, "end_pos": 1595, "annotation": "n_glycosylation_sequon" }, { "start_pos": 253, "end_pos": 255, "annotation": "n_glycosylation_sequon" }, { "start_pos": 509, "end_pos": 511, "annotation": "n_glycosylation_sequon" }, { "start_pos": 537, "end_pos": 539, "annotation": "n_glycosylation_sequon" }, { "start_pos": 655, "end_pos": 657, "annotation": "n_glycosylation_sequon" }, { "start_pos": 691, "end_pos": 693, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "51308", "name": "", "equation": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZBP4-1", "D4A1F2-3", "D3ZGN7-1", "Q7RTP6-1", "O94851-7", "Q8TDZ2-1", "Q8BML1-4", "Q8CJ19-1", "Q8VDP3-1", "Q86BA1-1" ], "evidence": [ { "id": "51308", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/51308" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D3ZBP4", "gene_name": "Mical1", "activity": [ { "ec_number": "1.6.3.1", "activity": "H(+) + NADH + O2 = H2O2 + NAD(+).", "evidence": [ { "id": "D3ZBP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZBP4" } ] }, { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "D3ZBP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZBP4" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "D3ZBP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZBP4" } ] }, { "ec_number": "1.6.3.1", "activity": "", "evidence": [ { "id": "D3ZBP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZBP4" } ] } ] }, { "uniprot_ac": "D3ZGN7", "gene_name": "Mical3", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "D3ZGN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZGN7" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "D3ZGN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZGN7" } ] } ] }, { "uniprot_ac": "D4A1F2", "gene_name": "Mical2", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "D4A1F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A1F2" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "D4A1F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A1F2" } ] } ] }, { "uniprot_ac": "O94851", "gene_name": "MICAL2", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "O94851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94851" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "O94851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94851" } ] } ] }, { "uniprot_ac": "Q7RTP6", "gene_name": "MICAL3", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "Q7RTP6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7RTP6" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "Q7RTP6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7RTP6" } ] } ] }, { "uniprot_ac": "Q86BA1", "gene_name": "Mical", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "Q86BA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86BA1" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "Q86BA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86BA1" } ] } ] }, { "uniprot_ac": "Q8BML1", "gene_name": "Mical2", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "Q8BML1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BML1" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "Q8BML1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BML1" } ] } ] }, { "uniprot_ac": "Q8CJ19", "gene_name": "Mical3", "activity": [ { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "Q8CJ19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CJ19" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "Q8CJ19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CJ19" } ] } ] }, { "uniprot_ac": "Q8TDZ2", "gene_name": "MICAL1", "activity": [ { "ec_number": "1.6.3.1", "activity": "H(+) + NADH + O2 = H2O2 + NAD(+).", "evidence": [ { "id": "Q8TDZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TDZ2" } ] }, { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "Q8TDZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TDZ2" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "Q8TDZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TDZ2" } ] }, { "ec_number": "1.6.3.1", "activity": "", "evidence": [ { "id": "Q8TDZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TDZ2" } ] } ] }, { "uniprot_ac": "Q8VDP3", "gene_name": "Mical1", "activity": [ { "ec_number": "1.6.3.1", "activity": "H(+) + NADH + O2 = H2O2 + NAD(+).", "evidence": [ { "id": "Q8VDP3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VDP3" } ] }, { "ec_number": "1.14.13.225", "activity": "H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl-(R)-S-oxide-[F-actin] + NADP(+).", "evidence": [ { "id": "Q8VDP3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VDP3" } ] }, { "ec_number": "1.14.13.225", "activity": "", "evidence": [ { "id": "Q8VDP3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VDP3" } ] }, { "ec_number": "1.6.3.1", "activity": "", "evidence": [ { "id": "Q8VDP3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VDP3" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 717 ], "snv_sites": [ 197, 250, 331, 431, 457, 475, 513, 540, 733, 930, 1248, 1254, 1292, 1299, 1400, 1402, 1526, 1539, 1571, 1710, 1711, 1743, 1862, 1955 ], "glycation_sites": [], "phosphorylation_sites": [ 631, 1688 ], "sequon_annotation_sites": [ { "start_pos": 1457, "end_pos": 1459 }, { "start_pos": 1593, "end_pos": 1595 }, { "start_pos": 253, "end_pos": 255 }, { "start_pos": 509, "end_pos": 511 }, { "start_pos": 537, "end_pos": 539 }, { "start_pos": 655, "end_pos": 657 }, { "start_pos": 691, "end_pos": 693 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "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": 24 }, { "field": "total_sites", "count": 24 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 24 }, { "field": "total_sites", "count": 24 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }