{ "uniprot_canonical_ac": "A2VDJ0-1", "uniprot_ac": "A2VDJ0", "uniprot_id": "T131L_HUMAN", "mass": { "chemical_mass": 179339.0, "monoisotopic_mass": 179339.0 }, "refseq": { "ac": "NP_001124479", "name": "transmembrane protein 131-like isoform 1 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479" }, "gene_names": [ { "name": "TMEM131L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0" }, { "name": "KIAA0922", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479", "id": "NP_001124479" }, { "name": "KIAA0922", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2VDJ0", "id": "A2VDJ0" }, { "name": "TMEM131L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479", "id": "NP_001124479" } ], "protein_names": [ { "name": "Transmembrane protein 131-like", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A2VDJ0" }, { "name": "transmembrane protein 131-like isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479", "id": "NP_001124479" } ], "function": [ { "annotation": "Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation.", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0#function" }, { "database": "PubMed", "id": "23690469", "url": "https://glygen.org/publication/PubMed/23690469" } ] }, { "annotation": "These data indicate that, during thymopoiesis, stage-specific surface translocation of TMEM131L may regulate immature single-positive thymocyte proliferation arrest", "evidence": [ { "database": "RefSeq", "id": "NP_001124479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479" }, { "database": "PubMed", "id": "23690469", "url": "https://glygen.org/publication/PubMed/23690469" } ] }, { "annotation": "These results show that TMEM131L corresponds to an evolutionary conserved regulator of the Notch signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001124479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479" }, { "database": "PubMed", "id": "28347816", "url": "https://glygen.org/publication/PubMed/28347816" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs761545204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761545204" }, { "id": "rs761545204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761545204" }, { "id": "rs761545204", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761545204#frequency_tab" }, { "id": "rs761545204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761545204" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1041, "end_pos": 1041, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "4", "chr_pos": "153604137", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771040409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771040409" }, { "id": "rs771040409", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771040409" }, { "id": "rs771040409", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771040409" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1064, "end_pos": 1064, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTS).", "chr_id": "4", "chr_pos": "153604206", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286605262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286605262" }, { "id": "rs1286605262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286605262" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1157, "end_pos": 1157, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "4", "chr_pos": "153612305_153612306insCTTC", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1157", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371116715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371116715" }, { "id": "rs371116715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371116715#frequency_tab" }, { "id": "rs371116715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371116715" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 1210, "end_pos": 1210, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLT).", "chr_id": "4", "chr_pos": "153620820", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257629934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257629934" }, { "id": "rs1257629934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257629934#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1214, "end_pos": 1214, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "4", "chr_pos": "153620832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2VDJ0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0" }, { "id": "rs373363345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373363345" }, { "id": "rs373363345", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373363345" }, { "id": "rs373363345", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373363345" }, { "id": "rs373363345", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373363345#frequency_tab" }, { "id": "rs373363345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373363345" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1303, "end_pos": 1303, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "4", "chr_pos": "153622948", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1303", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1351692138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351692138" }, { "id": "rs1351692138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351692138" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1324, "end_pos": 1324, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SWS->NWS).", "chr_id": "4", "chr_pos": "153623012", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174785259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174785259" }, { "id": "rs1174785259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174785259#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1447, "end_pos": 1447, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "4", "chr_pos": "153634206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A2VDJ0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0" }, { "id": "rs756932265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265" }, { "id": "rs756932265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265" }, { "id": "rs756932265", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265" }, { "id": "rs756932265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756932265" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1553, "end_pos": 1553, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "4", "chr_pos": "153636403", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1553", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs756932265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265" }, { "id": "rs756932265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756932265" }, { "id": "rs756932265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756932265" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1553, "end_pos": 1553, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NTT).", "chr_id": "4", "chr_pos": "153636403", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140295633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140295633" }, { "id": "rs140295633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140295633" }, { "id": "rs140295633", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140295633#frequency_tab" }, { "id": "rs140295633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140295633" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1598, "end_pos": 1598, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "4", "chr_pos": "153636538", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1598", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1561189731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561189731" }, { "id": "rs1561189731", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1561189731" } ], "glycoeffect": [ 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"chr_pos": "153580846", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764804752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764804752" }, { "id": "rs764804752", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs764804752" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "4", "chr_pos": "153583640", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750534236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750534236" }, { "id": "rs750534236", "database": "ExAC", "url": 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"end_pos": 417, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "4", "chr_pos": "153585552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760344209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760344209" }, { "id": "rs760344209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760344209" }, { "id": "rs760344209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760344209" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 439, "end_pos": 439, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "4", "chr_pos": "153586216", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": 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"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 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"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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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A2VDJ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDJ0" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDJ0" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A2VDJ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDJ0" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A2VDJ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDJ0" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A2VDJ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDJ0" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A2VDJ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2VDJ0" } ], "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": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "common_name": "Human" } ], "gene": [ { "name": "TMEM131L", "url": "https://www.uniprot.org/uniprot/A2VDJ0", "locus": { "chromosome": "4", "start_pos": 153636711, "end_pos": 153466346, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000121210", "url": "https://www.ensembl.org/id/ENSG00000121210" } ] } } ], "crossref": [ { "id": "ENSG00000121210", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121210", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A2VDJ0", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDJ0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "TMEM131L", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM131L", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23240", "url": "https://www.ncbi.nlm.nih.gov/gene/23240", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29146", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29146", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A2VDJ0", "url": "https://www.ebi.ac.uk/intact/interactors/id:A2VDJ0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "H0Y2M0", "url": "https://www.ebi.ac.uk/intact/interactors/id:H0Y2M0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022113", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022113", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039877", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039877", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045695", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045695", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23240", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23240", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "616243", "url": "http://www.omim.org/entry/616243", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A2VDJ0", "url": "https://www.nextprot.org/entry/NX_A2VDJ0", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "FINSPPY", "url": "https://omabrowser.org/oma/group/FINSPPY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2908591at2759", "url": "http://www.orthodb.org/?query=2908591at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22050", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22050", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22050:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22050:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF12371", "url": "http://pfam.xfam.org/family/PF12371", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19532", "url": "http://pfam.xfam.org/family/PF19532", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A2VDJ0", "url": "https://pharos.nih.gov/targets/A2VDJ0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A2VDJ0", "url": "http://purl.obolibrary.org/obo/PR_A2VDJ0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001124479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VDJ0-1", "url": "https://www.uniprot.org/uniprot/A2VDJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VDJ0-2", "url": "https://www.uniprot.org/uniprot/A2VDJ0-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VDJ0-3", "url": "https://www.uniprot.org/uniprot/A2VDJ0-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VDJ0-5", "url": "https://www.uniprot.org/uniprot/A2VDJ0-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VDJ0-6", "url": "https://www.uniprot.org/uniprot/A2VDJ0-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEQ2", "url": "https://www.uniprot.org/uniprot/F8WEQ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEQ2-1", "url": "https://www.uniprot.org/uniprot/F8WEQ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y2M0", "url": "https://www.uniprot.org/uniprot/H0Y2M0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y2M0-1", "url": "https://www.uniprot.org/uniprot/H0Y2M0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1609, "header": "sp|A2VDJ0-1|T131L_HUMAN Isoform 1 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1" }, "isoforms": [ { "isoform_ac": "A2VDJ0-1", "url": "", "sequence": { "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1609, "header": "sp|A2VDJ0-1|T131L_HUMAN Isoform 1 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1" }, "locus": { "chromosome": "4", "start_pos": 153636573, "end_pos": 153466398, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409663.7", "url": "https://www.ensembl.org/id/ENST00000409663.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000386574.3", "url": "https://www.ensembl.org/id/ENSP00000386574.3" } ] } }, { "isoform_ac": "A2VDJ0-2", "url": "", "sequence": { "sequence": "MLLVLECVLFSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1239, "header": "sp|A2VDJ0-2|T131L_HUMAN Isoform 2 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1" }, "locus": {} }, { "isoform_ac": "A2VDJ0-3", "url": "", "sequence": { "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1526, "header": "sp|A2VDJ0-3|T131L_HUMAN Isoform 3 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1" }, "locus": {} }, { "isoform_ac": "A2VDJ0-5", "url": "", "sequence": { "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQGDSEEGLEEPSQEQSFSDKLFSGKGLHFQPSVLDFGIQFLGHPVAKILHAYNPSRDSEVVVNSVFAAAGHFHVPPVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1610, "header": "sp|A2VDJ0-5|T131L_HUMAN Isoform 5 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1" }, "locus": { "chromosome": "4", "start_pos": 153636573, "end_pos": 153466398, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409959.8", "url": "https://www.ensembl.org/id/ENST00000409959.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000386787.3", "url": "https://www.ensembl.org/id/ENSP00000386787.3" } ] } }, { "isoform_ac": "A2VDJ0-6", "url": "", "sequence": { "sequence": "MGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1462, "header": "sp|A2VDJ0-6|T131L_HUMAN Isoform 6 of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=2 CANONICAL=A2VDJ0-1" }, "locus": {} }, { "isoform_ac": "F8WEQ2-1", "url": "", "sequence": { "sequence": "MAGLRRPQPGCYCRTAAAVNLLLGVFQVLLPCCRPGGAQGQAIEPLPNVVELWQAEEGELLLPTQLLGQTI", "length": 71, "header": "tr|F8WEQ2-1|F8WEQ2_HUMAN Computationally mapped isoform of Transmembrane 131 like OS=Homo sapiens OX=9606 GN=TMEM131L PE=4 SV=1 CANONICAL=A2VDJ0-1" }, "locus": { "chromosome": "4", "start_pos": 153550090, "end_pos": 153466398, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445960.5", "url": "https://www.ensembl.org/id/ENST00000445960.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413054.1", "url": "https://www.ensembl.org/id/ENSP00000413054.1" } ] } }, { "isoform_ac": "H0Y2M0-1", "url": "", "sequence": { "sequence": "PVPCRVIPAMGKTSFRIIFLPTEEGSIESSLFINTSSYGVLSYHVSGIGTRRISTEGSAKQLPNAYFLLPKVQSIQLSQMQAETTNTSLLQVQLECSLHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRDALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHFDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCGMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDIWTTTANRNANFPLSRDSSYCGNV", "length": 1387, "header": "tr|H0Y2M0-1|T131L_HUMAN Computationally mapped isoform of Transmembrane protein 131-like OS=Homo sapiens OX=9606 GN=TMEM131L PE=1 SV=1 CANONICAL=A2VDJ0-1" }, "locus": { "chromosome": "4", "start_pos": 153636573, "end_pos": 153555896, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000240487.5", "url": "https://www.ensembl.org/id/ENST00000240487.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000240487.5", "url": "https://www.ensembl.org/id/ENSP00000240487.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 343, "start_aa": "Asn", "end_pos": 343, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn343", "evidence": [ { "id": "A2VDJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "A2VDJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 522, "start_aa": "Asn", "end_pos": 522, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn522", "evidence": [ { "id": "A2VDJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "A2VDJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 708, "start_aa": "Asn", "end_pos": 708, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn708", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 709, "start_aa": "Asn", "end_pos": 709, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn709", "evidence": [ { "id": "A2VDJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 809, "start_aa": "Asn", "end_pos": 809, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn809", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 846, "start_aa": "Asn", "end_pos": 846, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn846", "evidence": [ { "id": "A2VDJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2VDJ0#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1122, "end_pos": 1122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "A2VDJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2VDJ0" } ], "site_lbl": "Ser1122" }, { "start_pos": 1229, "end_pos": 1229, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A2VDJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2VDJ0" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser1229" }, { "start_pos": 1528, "end_pos": 1528, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A2VDJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2VDJ0" }, { "database": "PubMed", "id": "29437277", "url": "" } ], "site_lbl": "Ser1528" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" }, { "database": "iPTMnet", "id": "A2VDJ0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2VDJ0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Identification of TMEM131L as a novel regulator of thymocyte proliferation in humans.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2013", "authors": "Maharzi N, Parietti V, Nelson E, Denti S, Robledo-Sarmiento M, Setterblad N, Parcelier A, Pla M, Sigaux F, Gluckman JC, Canque B", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" }, { "database": "RefSeq", "id": "NP_001124479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479" } ], "reference": [ { "type": "PubMed", "id": "23690469", "url": "https://glygen.org/publication/PubMed/23690469" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Evolutionary conservation of Notch signaling inhibition by TMEM131L overexpression.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Szuplewski S, Maharzi N, Nelson E, Alhaj Hussen K, Mignotte B, Guenal I, Canque B", "evidence": [ { "database": "RefSeq", "id": "NP_001124479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479" } ], "reference": [ { "type": "PubMed", "id": "28347816", "url": "https://glygen.org/publication/PubMed/28347816" } ] } ], "pathway": [ { "id": "hsa:23240", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23240", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZRG1-1", "protein_name": "Transmembrane 131 like", "gene_name": "Tmem131l", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGLRRPQSGAYRRTAAAVNLLLGVFQVLLSCCRPGGAQGQAFEPLPNVVELWQAEEGELLLPTQGDSEEDMEEPSQEQSFSDKLFIGKGLHFQPSVLDFGIQFLGYPAAKLLYAYNPSRDSEVVVNSVFTAARHFHVPPVHCRVIPAMGKTSFRIIFLPTEEGSFESSLFINTSSHGVFSYHVSGVGTRRASTEGSAEQLPNAHLLLPQVQSIQLSQTQAETTNTSLLRVQLECSLHNKVCQQLKSCYLGSDDTLHLEMNIIVAVENSSKQPEENTQALLDHLTIVYVATDESETSDESAVNMYVLHSGSSLIWIQDIHHFSQKNLLSLQFEPVLLSTSTTNFTKVASFTCRAGTSCDSGIVGIRRRKDTPTMKACLSSPVVQGYFRVDASTAQFHIESHKTATGVWSIWYQGHFDHSIVLKDVFVSKETKHILKVLSFRGPLFLPPGCWNIFSLKLAVKGVVLNLFTNVFLTTNTGAVFAIPLQIFSAPAKEGSLGFEVLAHCGMHYFMGKSKPETPDWERSLSLDRSTWDVDSELANKLYERWKKYKNGDVCRRNVLGMSQFAFAKKSKETEPFVSFLPRVVLEPGLVLNFSATALRNSVVKYFVVRNPSPWPVSLQLLPLSLYPRPEAAVRLLYKWFGTDMQMVNLSTGEFQLTKACPYQGEPSEESSLGALHVHLQPFDMRKVGVVFTPADYGKVTSLILIRNNLTVVDMVGVEGFGAQELLKVGGRLPGAGGSLRFKVPESTLMDCHRQLKDSKQILSITKNFKVENVGPLPITVTSLKINGYNCQGYGFEVLDCHPFSLSPNTSRDISIVFTPDFTSSWVIRELTLVTAAELEFHFTLNVTLPHHMLPLCAEVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNGSSSPQQNGDPVDMISSHSHKSTCKNFLDTYSPSDKGRGKSCLPVGPPLSRLQNAAKRSPATYSHSQKKHKCSFYYSKQKPSASTASSANITTEEKQTVTLASSLSAAKEDLCTNILNENWASLRYASGVNGSLQRNLTLPKNVLNKEESSLKNTVVSNTSSECSMKEGIQTCMFPKETDSKISEHVAELKEQEPCPQKTSKKPPESTLPKTPPQYPQSDLPEVSRKHGNNQQVPVKNEVDSFETVKAVDTKLSSVKKTQRESPEDTCSEKQDSPSAEQDDPYRKRKLQEKREGNTQTLNWNKTRTCRKHKKRASVQAPSSPRPSEQSEQRLVCSDVRSWCAQDSTGETCKAGIEIVGDSPVRREEDSSYQKSEKKCADKFCSDSSSDCGSSSGSVRASRGSRDSWSSSSSDCDRKPVVDIQQFLPPGDGVSPRDSPSEASMPLSLPQHVCSSTDVNGLSGFTESCPGLPAAPADAGEEKGLYPPGGLWPSQPVCLTSSFNCPVENGAPGVSEEPTSIPDSSFIDWSTSCEGQFSSVYCPLELNGYNAFPEENMNYTNGFPCSSKVQTDFIGHGTSSTWNTPASMPAAWGHASLVNSPSYLTSTRSLSPMSGLFGSIWAPQSDAYENCCPVSPATEHSTHMENQVMCKEYYLGFNPFRAYMNLDIWTSTANRSANFPLSRDSGYCGNV", "length": 1596 }, "evidence": [ { "id": "45924158", "url": "http://www.informatics.jax.org/homology/45924158", "database": "MGI" }, { "id": "A2VDJ0", "url": "https://omabrowser.org/oma/group/A2VDJ0/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q3U3D7-1", "protein_name": "Transmembrane protein 131-like", "gene_name": "Tmem131l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGLRRPQSGAYRRTAAAVNLLLGVFQVLLSCCRPGGAQGQAFEPLPNVVELWQAEEGELLLPTQGDSEEDMEEPSQEQSFSDKLFIGKGLHFQPSVLDFGIQFLGHPAAKLLYAYNPSRESEVVVNSVFTAARHFHVPPVHCRVIPAMGKASFRVIFLPTEEGSIESSLFINTSSHGVFSYHVSGVGTRRVSTEGSAEQLPNAYFLLPQVQSIQLSQTQAETTNTSLLRVQLECSLHNKVCQQLKSCSLGSDDALHLEMNIIVAVENSSKQPEENTQALLDHLSIVYVATDESDTSDESAVNMYVLHSGNSLIWIQDIHHFSQKNVLSLQFEPVLLSTSTTNFTKIASFTCKAGTSCDSGIMGLRKKKASPAMQACLSSPVVQGYFRTDASTAQFHIESHETATGVWSIWYRSHFDQSIVLKDVFVSKETKHILKVLSFRGPLFLPPGCWNIFSLKLAVKGIVLNLFTNVFLTTNTGAIFAIPLQIFSAPTKEGSLGFEVLAHCGMHYFMGKSKTENPNWERSLSLDRSTWDMDSELANKLYERWKKYKSGDACRRNVLGMSQFAFTKKSKETEPFVSFLPRVVPEPNLVLNFSATALRNSAVKYFVVRNPTPQPVSLQLLPLSLYPRPEAAVRLLHKWFGTDMQMVNLSTGEFQLTQACPYQGEPSEESSLGALHVHLQALETRRVGVVFTPADYGKVTSLILIRNNLTVVDMVGVEGFGAQELLKVGGRLPGAGGSLRFKVPESTLMDCHRQLKDSKQILSITKNFKVENIGPLPITVTSLKINGYNCQGYGFEVLDCHPFSLSPNTSRDISIVFTPDFTSSWVIRELTLVTAADLEFHFTLNVTLPHHMLPLCAEVVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNGSSSSQQNGDPVAMISSHPHKSTCKNFLDTYSPSDKGRGKSCLPVGPSLSRLQNAAKRSPATYGHSQKKHKCSFYYSKQKPSASAASSANVTTEEKQTVTLASSLSVAKEDICTNVLSENWVSLRYASGINGSLQKNLTLPKNVLHKEESSLKNTVVTNTPSECSMKEGVHTYMFPKETDSKISENVAELKEQEPCPQKTSKKPPESTLPKTPPQYLQSDLPEVSRKHGNKQQAPVRSEVDSFEPVRAADAEPSSVRKTQGASPEDTCSEKQDTPSAEQEDPSRKRKLQERREGSTQALNWNKTRPCRRNKKRASAQASSSPRPSEQSEQRLVCSDVRSWCAQDGAGEKCKAGTEVSGSSPERREEDSYYQKSEKKCADKFCSDSSSDCGSSSGSVRASRGSWGSWSSSSSDCDRRPVVDIQHFLPPGDGVSPQNFPSEASVPLSLPQHVCSSTDVSVLPEFTESPCPGLPATPAGAGEEKGLYPPGGLWPSQPVCLTSSFNCPVENGAPGVSQEPTSIPDSSFIDWSASCEGQFPSVYCPLELNDYNAFPEENMNYTNGFPCSSKVQTDFIGHSTPSTWNTPASMPAAWGHASLVNSPSYLTSTRSLSPMSGLFGSIWAPQSEVYETCCPISPATEHATHMENQVMCKEYYLGFNPFRAYMNLDIWTSTANRNANFPLSRDSSYCGNM", "length": 1597 }, "evidence": [ { "id": "45924158", "url": "http://www.informatics.jax.org/homology/45924158", "database": "MGI" }, { "id": "A2VDJ0", "url": "https://omabrowser.org/oma/group/A2VDJ0/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "pmid": "" }, { "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "evidence": [ { "database": "UniProtKB", "id": "A2VDJ0", "url": "https://www.uniprot.org/uniprot/A2VDJ0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1045, "end_pos": 1047, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1210, "end_pos": 1212, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1365, "end_pos": 1367, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1422, "end_pos": 1424, "annotation": "n_glycosylation_sequon" }, { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 225, "end_pos": 227, "annotation": "n_glycosylation_sequon" }, { "start_pos": 268, "end_pos": 270, "annotation": "n_glycosylation_sequon" }, { "start_pos": 343, "end_pos": 345, "annotation": "n_glycosylation_sequon" }, { "start_pos": 403, "end_pos": 405, "annotation": "n_glycosylation_sequon" }, { "start_pos": 439, "end_pos": 441, "annotation": "n_glycosylation_sequon" }, { "start_pos": 522, "end_pos": 524, "annotation": "n_glycosylation_sequon" }, { "start_pos": 593, "end_pos": 595, "annotation": "n_glycosylation_sequon" }, { "start_pos": 649, "end_pos": 651, "annotation": "n_glycosylation_sequon" }, { "start_pos": 709, "end_pos": 711, "annotation": "n_glycosylation_sequon" }, { "start_pos": 809, "end_pos": 811, "annotation": "n_glycosylation_sequon" }, { "start_pos": 846, "end_pos": 848, "annotation": "n_glycosylation_sequon" }, { "start_pos": 908, "end_pos": 910, "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": [ 225, 239, 343, 439, 522, 593, 708, 709, 809, 846 ], "o_linked_sites": [], "snv_sites": [ 80, 174, 227, 343, 390, 417, 439, 441, 478, 528, 572, 593, 612, 813, 846, 848, 918, 964, 1041, 1064, 1157, 1210, 1214, 1303, 1324, 1447, 1553, 1598 ], "glycation_sites": [], "phosphorylation_sites": [ 1122, 1229, 1528 ], "sequon_annotation_sites": [ { "start_pos": 1045, "end_pos": 1047 }, { "start_pos": 1210, "end_pos": 1212 }, { "start_pos": 1365, "end_pos": 1367 }, { "start_pos": 1422, "end_pos": 1424 }, { "start_pos": 173, "end_pos": 175 }, { "start_pos": 225, "end_pos": 227 }, { "start_pos": 268, "end_pos": 270 }, { "start_pos": 343, "end_pos": 345 }, { "start_pos": 403, "end_pos": 405 }, { "start_pos": 439, "end_pos": 441 }, { "start_pos": 522, "end_pos": 524 }, { "start_pos": 593, "end_pos": 595 }, { "start_pos": 649, "end_pos": 651 }, { "start_pos": 709, "end_pos": 711 }, { "start_pos": 809, "end_pos": 811 }, { "start_pos": 846, "end_pos": 848 }, { "start_pos": 908, "end_pos": 910 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 10 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_with_glycan", "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_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 31 }, { "field": "total_sites", "count": 28 } ], "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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 27 }, { "field": "total_sites", "count": 26 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }