{ "uniprot_canonical_ac": "O15027-1", "uniprot_ac": "O15027", "uniprot_id": "SC16A_HUMAN", "mass": { "chemical_mass": 251894.0, "monoisotopic_mass": 251894.0 }, "refseq": { "ac": "NP_001263347", "name": "protein transport protein Sec16A isoform 2", "summary": "This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, "gene_names": [ { "name": "SEC16A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15027", "id": "O15027" }, { "name": "KIAA0310; p250; SEC16L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347", "id": "NP_001263347" }, { "name": "KIAA0310", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15027", "id": "O15027" }, { "name": "SEC16A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347", "id": "NP_001263347" }, { "name": "SEC16L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15027", "id": "O15027" }, { "name": "SEC16", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15027", "id": "O15027" } ], "protein_names": [ { "name": "Protein transport protein Sec16A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15027" }, { "name": "SEC16 homolog A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15027" }, { "name": "p250", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15027" }, { "name": "protein transport protein Sec16A isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347", "id": "NP_001263347" }, { "name": "protein transport protein Sec16A; protein SEC16 homolog A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347", "id": "NP_001263347" } ], "function": [ { "annotation": "Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:17005010, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027#function" }, { "database": "PubMed", "id": "17005010", "url": "https://glygen.org/publication/PubMed/17005010" }, { "database": "PubMed", "id": "28067262", "url": "https://glygen.org/publication/PubMed/28067262" }, { "database": "PubMed", "id": "29300766", "url": "https://glygen.org/publication/PubMed/29300766" }, { "database": "UniProtKB", "id": "E9QAT4", "url": "https://www.uniprot.org/uniprot/E9QAT4#function" }, { "database": "PubMed", "id": "22355596", "url": "https://glygen.org/publication/PubMed/22355596" }, { "database": "PubMed", "id": "17428803", "url": "https://glygen.org/publication/PubMed/17428803" }, { "database": "PubMed", "id": "28442536", "url": "https://glygen.org/publication/PubMed/28442536" }, { "database": "PubMed", "id": "17192411", "url": "https://glygen.org/publication/PubMed/17192411" }, { "database": "PubMed", "id": "21768384", "url": "https://glygen.org/publication/PubMed/21768384" } ] }, { "annotation": "Mammalian cells contain two distinct Sec16 homologues: a large protein Sec16L of 2154 aa and a smaller protein Sec16S of 1060 aa.", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "17192411", "url": "https://glygen.org/publication/PubMed/17192411" } ] }, { "annotation": "Mammalian endoplasmic reticulum exit sites are organized by TANGO1 acting as a scaffold, in cooperation with Sec16 for efficient secretion.", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "28442536", "url": "https://glygen.org/publication/PubMed/28442536" } ] }, { "annotation": "Nbeal2 interacts with Dock7, Sec16a, and Vac14.", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "29187380", "url": "https://glygen.org/publication/PubMed/29187380" } ] }, { "annotation": "Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.", "evidence": [ { "database": "UniProtKB", "id": "A0A3F2YNZ0", "url": "https://www.uniprot.org/uniprot/A0A3F2YNZ0#function" }, { "database": "UniProtKB", "id": "RU364101", "url": "https://www.uniprot.org/uniprot/RU364101#function" }, { "database": "UniProtKB", "id": "X6RGP5", "url": "https://www.uniprot.org/uniprot/X6RGP5#function" }, { "database": "UniProtKB", "id": "A0A3F2YNX0", "url": "https://www.uniprot.org/uniprot/A0A3F2YNX0#function" }, { "database": "UniProtKB", "id": "A0A8I5KPG1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPG1#function" }, { "database": "UniProtKB", "id": "F1T0I1", "url": "https://www.uniprot.org/uniprot/F1T0I1#function" } ] }, { "annotation": "Results suggest that KIAA0310p, a mammalian homologue of yeast Sec16, builds up endoplasmic reticulum (ER) exit sites in cooperation with p125 and plays a role in membrane traffic from the ER.", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "17428803", "url": "https://glygen.org/publication/PubMed/17428803" } ] }, { "annotation": "Sar1-GTP-dependent assembly of Sec16 on the endoplasmic reticulum(ER) membrane forms an organized scaffold defining ER exit sites", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "17005010", "url": "https://glygen.org/publication/PubMed/17005010" } ] }, { "annotation": "Sec16A also stabilized the interacting ubiquitin ligase RNF152, which localizes to the lysosome and has structural similarity with RNF183 Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "29300766", "url": "https://glygen.org/publication/PubMed/29300766" } ] }, { "annotation": "Sec16A remains associated with endoplasmic reticulum exit sites throughout mitosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "21045114", "url": "https://glygen.org/publication/PubMed/21045114" } ] }, { "annotation": "These data are consistent with a model where Sec16 acts as a platform for COPII assembly at endoplasmic reticulum exit sites.", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "19638414", "url": "https://glygen.org/publication/PubMed/19638414" } ] }, { "annotation": "These findings highlight a novel function of Sec16A as an essential mediator of endoplasmic reticulum stress-associated unconventional secretion. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" }, { "database": "PubMed", "id": "28067262", "url": "https://glygen.org/publication/PubMed/28067262" } ] }, { "annotation": "This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1253259311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253259311" }, { "id": "rs1253259311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253259311#frequency_tab" }, { "id": "rs1253259311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253259311" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 587, "end_pos": 587, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS); o-glyco-site-loss (S->N).", "chr_id": "9", "chr_pos": "136475856", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388120036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388120036" }, { "id": "rs1388120036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388120036" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1001, "end_pos": 1001, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "9", "chr_pos": "136474615", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148167113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148167113" }, { "id": "rs148167113", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148167113" }, { "id": "rs148167113", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148167113" }, { "id": "rs148167113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148167113#frequency_tab" }, { "id": "rs148167113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148167113" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1001, "end_pos": 1001, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "9", "chr_pos": "136474614", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.004992", "site_lbl": "T1001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs533340734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533340734" }, { "id": "rs533340734", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533340734" }, { "id": "rs533340734", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533340734" }, { "id": "rs533340734", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs533340734#frequency_tab" }, { "id": "rs533340734", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs533340734" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1011, "end_pos": 1011, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "9", "chr_pos": "136474584", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P1011", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768738608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768738608" }, { "id": "rs768738608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768738608" }, { "id": "rs768738608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768738608#frequency_tab" }, { "id": "rs768738608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768738608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1011, "end_pos": 1011, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "9", "chr_pos": "136474585", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1011", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768738608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768738608" }, { "id": "rs768738608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768738608" }, { "id": "rs768738608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768738608#frequency_tab" }, { "id": "rs768738608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768738608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1011, "end_pos": 1011, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "9", "chr_pos": "136474585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1011", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770919206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770919206" }, { "id": "rs770919206", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770919206" }, { "id": "rs770919206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770919206#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1012, "end_pos": 1012, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "9", "chr_pos": "136474581", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770919206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770919206" }, { "id": "rs770919206", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770919206" }, { "id": "rs770919206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770919206#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1012, "end_pos": 1012, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "9", "chr_pos": "136474581", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1164022676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164022676" }, { "id": "rs1164022676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164022676" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1014, "end_pos": 1014, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "9", "chr_pos": "136468466", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1014", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1164022676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164022676" }, { "id": "rs1164022676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164022676" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1014, "end_pos": 1014, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "9", "chr_pos": "136468466", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1014", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1443931072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443931072" }, { "id": "rs1443931072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443931072" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1014, "end_pos": 1014, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "9", "chr_pos": "136468465", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1014", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752848487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752848487" }, { "id": "rs752848487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752848487" }, { "id": "rs752848487", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752848487#frequency_tab" }, { "id": "rs752848487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752848487" }, { "id": "rs1328782193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328782193" }, { "id": "rs1328782193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328782193" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1016, "end_pos": 1016, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "9", "chr_pos": "136468459", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746064192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746064192" }, { "id": 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"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", 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"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 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"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, 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"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", 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"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": "" 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"" }, { "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 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"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 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"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": "O15027", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15027" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15027", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15027" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15027", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15027" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15027", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15027" } ], "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": 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"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": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "common_name": "Human" } ], "gene": [ { "name": "SEC16A", "url": "https://www.uniprot.org/uniprot/O15027", "locus": { "chromosome": "9", "start_pos": 136440096, "end_pos": 136483759, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000148396", "url": "https://www.ensembl.org/id/ENSG00000148396" } ] } } ], "crossref": [ { "id": "ENSG00000148396", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148396", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15027", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15027", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd09233", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09233", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4295654", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295654", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SEC16A", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16A", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9919", "url": "https://www.ncbi.nlm.nih.gov/gene/9919", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29006", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29006", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15027", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15027*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR024298", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024298", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024340", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024340", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024880", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024880", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9919", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9919", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612854", "url": "http://www.omim.org/entry/612854", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15027", "url": "https://www.nextprot.org/entry/NX_O15027", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15027", "url": "https://oglcnac.org/atlas/detail/O15027", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15027", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YKSPYDL", "url": "https://omabrowser.org/oma/group/YKSPYDL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1361743at2759", "url": "http://www.orthodb.org/?query=1361743at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13402", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13402", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13402:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13402:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF12931", "url": "http://pfam.xfam.org/family/PF12931", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12932", "url": "http://pfam.xfam.org/family/PF12932", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15027", "url": "https://pharos.nih.gov/targets/O15027", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15027", "url": "http://purl.obolibrary.org/obo/PR_O15027", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0C4DH09", "url": "https://www.uniprot.org/uniprot/A0A0C4DH09", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DH09-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DH09-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3F2YNX0", "url": "https://www.uniprot.org/uniprot/A0A3F2YNX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3F2YNX0-1", "url": "https://www.uniprot.org/uniprot/A0A3F2YNX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3F2YNZ0", "url": "https://www.uniprot.org/uniprot/A0A3F2YNZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3F2YNZ0-1", "url": "https://www.uniprot.org/uniprot/A0A3F2YNZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPG1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPG1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KQ88", "url": "https://www.uniprot.org/uniprot/A0A8I5KQ88", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KQ88-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KQ88-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1T0I1", "url": "https://www.uniprot.org/uniprot/F1T0I1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1T0I1-1", "url": "https://www.uniprot.org/uniprot/F1T0I1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15027-1", "url": "https://www.uniprot.org/uniprot/O15027-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15027-2", "url": "https://www.uniprot.org/uniprot/O15027-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15027-3", "url": "https://www.uniprot.org/uniprot/O15027-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15027-4", "url": "https://www.uniprot.org/uniprot/O15027-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15027-5", "url": "https://www.uniprot.org/uniprot/O15027-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N9G1", "url": "https://www.uniprot.org/uniprot/Q8N9G1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N9G1-1", "url": "https://www.uniprot.org/uniprot/Q8N9G1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RGP5", "url": "https://www.uniprot.org/uniprot/X6RGP5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RGP5-1", "url": "https://www.uniprot.org/uniprot/X6RGP5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2357, "header": "sp|O15027-1|SC16A_HUMAN Isoform 1 of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=4 CANONICAL=O15027-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DH09-1", "url": "", "sequence": { "sequence": "PAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 751, "header": "tr|A0A0C4DH09-1|A0A0C4DH09_HUMAN Computationally mapped isoform of SEC16 homolog A, endoplasmic reticulum export factor OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136462961, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000277537.10", "url": "https://www.ensembl.org/id/ENST00000277537.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000277537.6", "url": "https://www.ensembl.org/id/ENSP00000277537.6" } ] } }, { "isoform_ac": "A0A3F2YNX0-1", "url": "", "sequence": { "sequence": "XETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2146, "header": "tr|A0A3F2YNX0-1|A0A3F2YNX0_HUMAN Computationally mapped isoform of Protein transport protein sec16 OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=2 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136477115, "end_pos": 136441756, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371706.8", "url": "https://www.ensembl.org/id/ENST00000371706.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000360771.4", "url": "https://www.ensembl.org/id/ENSP00000360771.4" } ] } }, { "isoform_ac": "A0A3F2YNZ0-1", "url": "", "sequence": { "sequence": "MPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKLSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2154, "header": "tr|A0A3F2YNZ0-1|A0A3F2YNZ0_HUMAN Computationally mapped isoform of Protein transport protein sec16 OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136477081, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431893.3", "url": "https://www.ensembl.org/id/ENST00000431893.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000387583.2", "url": "https://www.ensembl.org/id/ENSP00000387583.2" } ] } }, { "isoform_ac": "A0A8I5KPG1-1", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGEAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2100, "header": "tr|A0A8I5KPG1-1|SC16A_HUMAN Computationally mapped isoform of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136477615, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690691.1", "url": "https://www.ensembl.org/id/ENST00000690691.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508778.1", "url": "https://www.ensembl.org/id/ENSP00000508778.1" } ] } }, { "isoform_ac": "A0A8I5KQ88-1", "url": "", "sequence": { "sequence": "EKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPV", "length": 370, "header": "tr|A0A8I5KQ88-1|A0A8I5KQ88_HUMAN Computationally mapped isoform of SEC16 homolog A, endoplasmic reticulum export factor OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136456127, "end_pos": 136447038, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689049.1", "url": "https://www.ensembl.org/id/ENST00000689049.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509752.1", "url": "https://www.ensembl.org/id/ENSP00000509752.1" } ] } }, { "isoform_ac": "F1T0I1-1", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPVSSVRPQGRSGRNDGLLALSSPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2334, "header": "tr|F1T0I1-1|F1T0I1_HUMAN Computationally mapped isoform of Protein transport protein sec16 OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136477615, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000290037.10", "url": "https://www.ensembl.org/id/ENST00000290037.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000290037.7", "url": "https://www.ensembl.org/id/ENSP00000290037.7" } ] } }, { "isoform_ac": "O15027-1", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2357, "header": "sp|O15027-1|SC16A_HUMAN Isoform 1 of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=4 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136477615, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684901.1", "url": "https://www.ensembl.org/id/ENST00000684901.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508822.1", "url": "https://www.ensembl.org/id/ENSP00000508822.1" } ] } }, { "isoform_ac": "O15027-2", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2312, "header": "sp|O15027-2|SC16A_HUMAN Isoform 2 of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=4 CANONICAL=O15027-1" }, "locus": {} }, { "isoform_ac": "O15027-3", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGEAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2337, "header": "sp|O15027-3|SC16A_HUMAN Isoform 3 of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=4 CANONICAL=O15027-1" }, "locus": {} }, { "isoform_ac": "O15027-4", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKLSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2332, "header": "sp|O15027-4|SC16A_HUMAN Isoform 4 of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=4 CANONICAL=O15027-1" }, "locus": {} }, { "isoform_ac": "O15027-5", "url": "", "sequence": { "sequence": "MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPVSSVRPQGRSGRNDGLLALSSPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 2379, "header": "sp|O15027-5|SC16A_HUMAN Isoform 5 of Protein transport protein Sec16A OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=4 CANONICAL=O15027-1" }, "locus": {} }, { "isoform_ac": "Q8N9G1-1", "url": "", "sequence": { "sequence": "MDLLPTSILLASLWICSHLHPPGVSVDLPPTSILLVSLWICSHLHPPGVSVDRPPPPSSWCLCGSPPTSILLVSLWICSPPPSSWCLCGSAPTSILLVSLWIWRLWGLTEGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPVSSVRPQGRSGRNDGLLALSSPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 385, "header": "tr|Q8N9G1-1|Q8N9G1_HUMAN Computationally mapped isoform of cDNA FLJ37437 fis, clone BRAWH2003025 OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136448579, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000313084.9", "url": "https://www.ensembl.org/id/ENST00000313084.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000317437.5", "url": "https://www.ensembl.org/id/ENSP00000317437.5" } ] } }, { "isoform_ac": "X6RGP5-1", "url": "", "sequence": { "sequence": "ARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGPLAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLPSFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETKEPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGEAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN", "length": 1059, "header": "tr|X6RGP5-1|X6RGP5_HUMAN Computationally mapped isoform of Protein transport protein sec16 OS=Homo sapiens OX=9606 GN=SEC16A PE=1 SV=1 CANONICAL=O15027-1" }, "locus": { "chromosome": "9", "start_pos": 136467051, "end_pos": 136441758, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453963.5", "url": "https://www.ensembl.org/id/ENST00000453963.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403525.1", "url": "https://www.ensembl.org/id/ENSP00000403525.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1001, "start_aa": "Thr", "end_pos": 1001, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1001", "evidence": [ { "id": "O15027", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15027" }, { "id": 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], "reference": [ { "type": "PubMed", "id": "29300766", "url": "https://glygen.org/publication/PubMed/29300766" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15027" }, { "database": "O-GlcNAc Atlas", "id": "O15027", "url": "https://oglcnac.org/atlas/detail/O15027" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", 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for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15027" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15027" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15027" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "A protein assembly-disassembly pathway in vitro that may correspond to sequential steps of synaptic vesicle docking, activation, and fusion.", "journal": "Cell", "date": "1993", "authors": "Sollner T, Bennett MK, Whiteheart SW, Scheller RH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8221884", "url": "https://glygen.org/publication/PubMed/8221884" } ] }, { "title": "Sec18p (NSF)-driven release of Sec17p (alpha-SNAP) can precede docking and fusion of yeast vacuoles.", "journal": "Cell", "date": "1996", "authors": "Mayer A, Wickner W, Haas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8620540", "url": "https://glygen.org/publication/PubMed/8620540" } ] }, { "title": "Mammalian Sly1 regulates syntaxin 5 function in endoplasmic reticulum to Golgi transport.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Dascher C, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8663406", "url": "https://glygen.org/publication/PubMed/8663406" } ] }, { "title": "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells.", "journal": "Cell", "date": "1997", "authors": "Hay JC, Chao DS, Kuo CS, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9094723", "url": "https://glygen.org/publication/PubMed/9094723" } ] }, { "title": "The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner.", "journal": "Cell", "date": "1997", "authors": "Nakamura N, Lowe M, Levine TP, Rabouille C, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9150144", "url": "https://glygen.org/publication/PubMed/9150144" } ] }, { "title": "Assembly and disassembly of a ternary complex of synaptobrevin, syntaxin, and SNAP-25 in the membrane of synaptic vesicles.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Otto H, Hanson PI, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9177194", "url": "https://glygen.org/publication/PubMed/9177194" } ] }, { "title": "An isoform of the Golgi t-SNARE, syntaxin 5, with an endoplasmic reticulum retrieval signal.", "journal": "Molecular biology of the cell", "date": "1997", "authors": "Hui N, Nakamura N, Sonnichsen B, Shima DT, Nilsson T, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9307973", "url": "https://glygen.org/publication/PubMed/9307973" } ] }, { "title": "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs.", "journal": "The Journal of cell biology", "date": "1998", "authors": "Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9647643", "url": "https://glygen.org/publication/PubMed/9647643" } ] } ], "pathway": [ { "id": "hsa:9919", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9919", "resource": "KEGG Pathway" }, { "id": "R-HSA-204005", "name": "COPII-mediated vesicle transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "resource": "Reactome", "description": "COPII-mediated vesicle transport" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZTA3-1", "protein_name": "Protein transport protein sec16", "gene_name": "Sec16a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQPPPQAVPSGVAGPPPAGNPRSSFWANSPYRKPANNNAPVAPITRPLQPVTDPFAFNRQTLQNTPVGSSSKSSPPNLPGPALPVFSQWPGLPVPPTNAGDSSTGLHEPLPGTLSQPRADPSLFPPASTPSSLPGLEVNRSAEVDSSSGPEVQMLPHPPHYIPGVGPEQPHGGHLNDSGAGPDQSMNRHAPHDGAVAHAASPFFPQPQMPGQWGPVHGGPPPSYHHHSPCLEGPVQDMGPQAASLPHFPSPSSLHEGPGHESRVPQTFTPASLASGEGNEIVHQQSKNYPSSSFPPKHSFEQNSRVGNMWASAEFRQNPGVNKEHLLDPAHVNPFTQGNSPENQVHHPPVAATNHALQEAASGALSMFFQGEETENEENLSSEKAGLDDRLDSGSFSSTSRLGHPPLPGAGGVYQAAQEGDVQPYFSQFVGIRHDKQTTMTPANDAWGDIPGAGTHCASGPQCENVENLEFVQNQEVLPRETVNVDPFSPSDQFRYGPLPGPAASRPVTSGLTRGGGLNLEAPDMPLHPTRPDSVSSSYSNHSHRSPPGSARPQELVGTFIQQEVGKLEDDTSGSFFKQIDSSPVGGETDEMTRSQNYCSSLSQPSTPSPPKPTGVFQTSANSSFEPVKSHLVGVKPVEADRANMVVEVRGTQNCQKHGAAVLPPDATPGNLEQPPDNMETLCAPQACPLPLSTTGEAGQLVSHTAGPPLDTVRPMPDKRSSARAQGPVKCESPATTLWAQNELPDFGGNVLLAPAAPALYVPVKPKPSEVVHHPEKGMSGQQSWKSGSVPPLQNQDPPGASENLENPPKVGEEEALPLQASSGYASLLSSPPTESLHNQPVLIAQPDQSYNLAQPINFSVSLPNPNEKNQCWGDAVVGEKSMVSTRALGADHEEHAALSAIPASTVTGSSLPNSVTQNCAPRGSGSSEMIASQPASWLVQQLSPQIPQSQHPNAEKGPSEFVNSPANGSVMLAPPANSAVIPNSNKGYHSRNPEEAIGALDFTLSRTLENPVRMCSPSHSNSPASQQPLANHPRQSGPGLHNQDHFYQQVTKDAQDHRSLERGQSELVPPPPQNSPQQVPQAACPEPSNPESPPTQGQSEGLVQPSASPAPVNTGQQPQPPQSSSASVTSTNSNQAAVRSEQPWLHPPPTTFGPAPQDLASYYYYRPPYEAYQSPYPSPYPSDPGAASLYYQDIYGLYEPRYRPYDSSASAYAENHRYSEPERPSSRASHYSDQLTPRQGYPEGYYNSKSGWSSHSDYYANYYSGQYDYGDPGRWDRYYGSRFRDPRTWDRRYWYDSDHDPYRKDNYAYSDRPEKCDDHWRYDPRFTGSFDDDTELHRDPYGEEVDRRSIHSEHSARSLRSTHSLPSRRSSLSSHSHQSQIYRSHHVTGGSFEAPHAPGSFHGDYAYGTYASNFSGAHGFPEYSYPADTSWPAAEQVPSRPTSPEKFTVPHVCARFGPGGQLLKVIPNLPSEGQPALVEIHSLETLLQHTPEQEEMRSFPGPLGKDDTHKVDVINFAQNKATKCLQNESLIDKESASLLWNFIILLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTDSQTVTSSVLEKETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASKGLLDAAHFCYLMAQVGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAHTCSLPNFQVFKFIYLCRLAEMGLATQAFHYCEVIAKSVLTQPTAYSPVLISQLIQMASQLRLFDPQLKEKPEEESFVEPAWLVQLQHVERQIQEGTVLWNQDGTEPQQCHITSGSEVEQPDGPGLNQQAGPRADNPLLMPSTEPLVHSVQLLPTAPQTLPDGQPAHLARVPMFPVPMSRPPLELSAAYGPPGSVLGFPESSRSDPAVLHPGQALPPATPGLQESGPPLQEARSPDPEMVPQGSPVRHSPPEPREEEFGKNVADLGSSRTAQDSETSPVWDLGSSSLTRAPSLTPDSEGKKPAQAVKKEPKEPKKTESWFSRWLPGKKRTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSFPRVPQAAPTGPAGPPMASVNVFSRKAGGSRARYVDVLNPSGTQRSEPALAPADFFAPLAPLPIPSNLFVPNPDAEESQPADGTGCRGQAPAGTQSKAEPTLEAKVVSSTVSAPGPELSPSKPADGSQGGELSRCSSLSSLSQEVSRHFHQAPGDHCPAGATPGGSVPFYNPAQLVQASVTSGTSRPGRIGQRKYAALN", "length": 2366 }, "evidence": [ { "id": "45928662", "url": "http://www.informatics.jax.org/homology/45928662", "database": "MGI" }, { "id": "O15027", "url": "https://omabrowser.org/oma/group/O15027/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "E9QAT4-1", "protein_name": "Protein transport protein Sec16A", "gene_name": "Sec16a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQPPPQAVPSGVAGPPPAGNPRSMFWANSPYRKPANNAPVAPITRPLQPVTDPFAFNRQTLQNTPVGSSSKSSLPNLPGPALSVFSQWPGLPVTPTNAGDSSTGLHEPLSGTLSQPRADASLFPPASTPSSLPGLEVSRNAEADPSSGHEVQMLPHSAHYIPGVGPEQPLGGQMNDSGSGPDQPMNRHAPHDGAVTHAASPFLPQPQMPGQWGPAQGGPQPSYQHHSPYLEGPVQNMGLQAASLPHFPPPSSLHQGPGHESHAPQTFTPASLASGEGNEIVHQQSKNHPLSSFPPKHTFEQNSRIGNMWASPELKQNPGVNKEHLLDPAHVNPFTQGNSPENQAHHPPVAATNHALQEAASGALSMFFQGEETENEENLSSEKAGLDKRLNLDSFSSTSRLGHPPPPGASGVYQAFPRGPSSEAAQEGDAQPYFSQSVGVRLDKQSTVPPANDAWGDVPGTGTRCASGPQCENVENLEFVQNQEVLPRETLSVDPFPLSDQIRYGPLPGPAASRPATVGLTRGGGLNLEAPDTPLHPTRPDSVSSSYSSHSHRSPPGSARPQELVGTFIQQEVGKLEDDTSGSFFKQIDSSPVGGETDEVTGSQNCCSSLSQPSTPSPPKPTGVFQTSANSSFEPVKSHLVGVKPVEADRANMVVEVRGTQYCPKKRRAAVAPPDATSGNLEQPPDNMETPCAPQACPLPLSTTGEAGQLVSNTAGTPLDTVRPVPDKRPSARAQGPVKCESPATTLWAQNELPDFGGNVLLAPAAPALYVPVKPKPSEVVHHPEKGMSGQKAWKQGSVPPLQNQDPPGASENLENPPKVGEEEALPVQASSGYASLLSSPPTESLHNQPVLIAQPDQSYNLAQPINFSVSLLNPNEKNQSWGDAVVGERSIVSNNWALGGDPEERAALSGVPASAVTGASLPSSIPQNCAPQGSGSSEMIASQSASWLVQQLSPQTPQSPHPNAEKGPSEFVSSPAGNTSVMLVPPASSTLVPNSNKAKHSSNQEEAVGALDFTLNRTLENPVRMYSPSPSDGPASQQPLPNHPRQSGPGLHNQDHFYQQVTKDAQDQHRLERAQPELVPPRPQNSPQVPQASCPEPSNPESPPTQGQSESLAQPPASPASVNTGQLLPQPPQASSASVTSTNSSQAAVRSEQLWLHPPPPNTFGPAPQDLASYYYYRPLYDAYQSQYPSPYPSDPGTASLYYQDMYGLYEPRYRPYDSSASAYAENHRYSEPERPSSRASHYSDQLAPRQGYPEGYYNSKSGWSSHSDYYANYYSGQYDYGDPSRWDRYYGSRLRDPRTWDRRYWYDSEHDPYRKDHYAYSDRPEKCDDHWRYDPRFTGSFDDDAEIHRDPYGEEADRRSIHSEHSARSLRSTHSLPSRRSSLSSHSHQSQIYRSHHVTGGSFEAPHAPGSFHGDYAYGTYASNFSGAHGFPEYSYPADTSWPAVEQVPSRPTSPEKFTVPHVCARFGPGGQLLKVIPNLPSEGQPALVEIHSLETLLQHTPEQEEMRSFPGPLGKDDTHKVDVINFAQNKATKCLQNESLIDKESASLLWKFIILLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQLSFLTDSQTVTTSVLEKETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMATMGDTLASKGLLDAAHFCYLMAQVGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAHTCSLPNFQVFKFIYLCRLAEMGLATQAFHYCEVIAKSVLTQPGAYSPVLISQLTQMASQLRLFDPQLKEKPEEESFVEPAWLVQLQHVERQIQEGTVLWSQDGTEPQQCRITSGSEVEQSDGPGLNQQAGPQADNPLLMPSTEPLMHGVQLLPTAPQTLPDGQPAHLSRVPMFPVPMSRGPLELSPAYGPPGSALGFPESSRSDPAVLHPGQALPPTTLSLQESGLPPQEAKSPDPEMVPRGSPVRHSPPELSQEEFGESFADPGSSRTAQDLETSPVWDLGSSSLTRAPSLTSDSEGKKPAQAVKKEPKEPKKTESWFSRWLPGKKRTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSFPRVPQVAPTGPAGPPTASVNVFSRKAGGSRARYVDVLNPSGTQRSEPALAPADFFAPLAPLPIPSNLFVPNPDAEEPQPADGTGCRGQAPAGTQSKAESTLEPKVGSSTVSAPGPELLPSKPDGSQGGEAPGDHCPTGAPHGGSVPFYNPAQLVQASVTSGNSRPGRIGQRKYAALN", "length": 2357 }, "evidence": [ { "id": "45928662", "url": "http://www.informatics.jax.org/homology/45928662", "database": "MGI" }, { "id": "O15027", "url": "https://omabrowser.org/oma/group/O15027/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "ER to Golgi transport vesicle membrane", "id": "GO:0012507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012507", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "COPII vesicle coating", "id": "GO:0048208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048208", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum exit site", "id": "GO:0070973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070973", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" }, { "name": "protein exit from endoplasmic reticulum", "id": "GO:0032527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032527", "evidence": [ { "database": "UniProtKB", "id": "O15027", "url": "https://www.uniprot.org/uniprot/O15027" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 139, "end_pos": 141, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1411, "end_pos": 1413, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1548, "end_pos": 1550, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1766, "end_pos": 1768, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2052, "end_pos": 2054, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2128, "end_pos": 2130, "annotation": "n_glycosylation_sequon" }, { "start_pos": 294, "end_pos": 296, "annotation": "n_glycosylation_sequon" }, { "start_pos": 345, "end_pos": 347, "annotation": "n_glycosylation_sequon" }, { "start_pos": 386, "end_pos": 388, "annotation": "n_glycosylation_sequon" }, { "start_pos": 608, "end_pos": 610, "annotation": "n_glycosylation_sequon" }, { "start_pos": 680, "end_pos": 682, "annotation": "n_glycosylation_sequon" }, { "start_pos": 844, "end_pos": 846, "annotation": "n_glycosylation_sequon" }, { "start_pos": 856, "end_pos": 858, "annotation": "n_glycosylation_sequon" }, { "start_pos": 882, "end_pos": 884, "annotation": "n_glycosylation_sequon" }, { "start_pos": 982, "end_pos": 984, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 587, 589, 600, 836, 891, 941, 1001, 1012, 1014, 1016, 1019, 1022, 1025, 1244, 1245, 1618, 2081, 2083, 2158, 2159 ], "snv_sites": [ 38, 40, 101, 288, 450, 510, 520, 527, 567, 587, 589, 612, 653, 773, 836, 840, 850, 891, 908, 941, 961, 1001, 1011, 1012, 1014, 1016, 1019, 1022, 1025, 1127, 1214, 1226, 1243, 1244, 1245, 1375, 1515, 1531, 1577, 1580, 1586, 1618, 1722, 1775, 2083, 2158, 2159, 2199, 2310 ], "glycation_sites": [], "phosphorylation_sites": [ 29, 74, 122, 125, 129, 197, 201, 296, 314, 331, 529, 559, 568, 569, 575, 587, 589, 592, 593, 595, 600, 605, 606, 609, 610, 957, 962, 984, 1069, 1207, 1229, 1305, 1325, 1327, 1347, 1350, 1353, 1356, 1359, 1362, 1365, 1369, 1380, 1398, 1436, 1437, 1440, 1441, 1550, 1573, 1601, 1907, 1939, 1964, 2022, 2042, 2054, 2056, 2073, 2076, 2081, 2083, 2107, 2271, 2285, 2291 ], "sequon_annotation_sites": [ { "start_pos": 139, "end_pos": 141 }, { "start_pos": 1411, "end_pos": 1413 }, { "start_pos": 1548, "end_pos": 1550 }, { "start_pos": 1766, "end_pos": 1768 }, { "start_pos": 2052, "end_pos": 2054 }, { "start_pos": 2128, "end_pos": 2130 }, { "start_pos": 294, "end_pos": 296 }, { "start_pos": 345, "end_pos": 347 }, { "start_pos": 386, "end_pos": 388 }, { "start_pos": 608, "end_pos": 610 }, { "start_pos": 680, "end_pos": 682 }, { "start_pos": 844, "end_pos": 846 }, { "start_pos": 856, "end_pos": 858 }, { "start_pos": 882, "end_pos": 884 }, { "start_pos": 982, "end_pos": 984 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 20 }, { "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": 20 } ], "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": 20 }, { "field": "total_sites", "count": 20 }, { "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": 20 } ], "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": 66 }, { "field": "total_sites", "count": 66 } ], "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": 67 }, { "field": "total_sites", "count": 49 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 60 }, { "field": "total_sites", "count": 43 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 114 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }