{ "uniprot_canonical_ac": "A0AVI4-1", "ptm_annotation": [], "sequence": { "header": "sp|A0AVI4-1|TM129_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKLRAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCLTCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR" }, "uniprot_id": "H7C4G7_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [ { "gene_name": "TMEM129", "uniprot_ac": "A0AVI4", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "ec_number": "2.3.2.27", "activity": "" } ] }, { "gene_name": "VCP", "uniprot_ac": "P55072", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/P55072", "id": "P55072", "database": "UniProtKB" } ], "ec_number": "3.6.4.6", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/P55072", "id": "P55072", "database": "UniProtKB" } ], "ec_number": "3.6.4.6", "activity": "" } ] }, { "gene_name": "UBE2J2", "uniprot_ac": "Q8N2K1", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q8N2K1", "id": "Q8N2K1", "database": "UniProtKB" } ], "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/Q8N2K1", "id": "Q8N2K1", "database": "UniProtKB" } ], "ec_number": "2.3.2.23", "activity": "" } ] } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20348956", "type": "PubMed", "id": "20348956" } ], "title": "A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "Kiemeney LA, Sulem P, Besenbacher S, Vermeulen SH, Sigurdsson A, Thorleifsson G, Gudbjartsson DF, Stacey SN, Gudmundsson J, Zanon C, Kostic J, Masson G, Bjarnason H, Palsson ST, Skarphedinsson OB, Gudjonsson SA, Witjes JA, Grotenhuis AJ, Verhaegh GW, Bishop DT, Sak SC, Choudhury A, Elliott F, Barrett JH, Hurst CD, de Verdier PJ, Ryk C, Rudnai P, Gurzau E, Koppova K, Vineis P, Polidoro S, Guarrera S, Sacerdote C, Campagna M, Placidi D, Arici C, Zeegers MP, Kellen E, Gutierrez BS, Sanz-Velez JI, Sanchez-Zalabardo M, Valdivia G, Garcia-Prats MD, Hengstler JG, Blaszkewicz M, Dietrich H, Ophoff RA, van den Berg LH, Alexiusdottir K, Kristjansson K, Geirsson G, Nikulasson S, Petursdottir V, Kong A, Thorgeirsson T, Mungan NA, Lindblom A, van Es MA, Porru S, Buntinx F, Golka K, Mayordomo JI, Kumar R, Matullo G, Steineck G, Kiltie AE, Aben KK, Jonsson E, Thorsteinsdottir U, Knowles MA, Rafnar T, Stefansson K", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20972438", "type": "PubMed", "id": "20972438" } ], "title": "A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "Rothman N, Garcia-Closas M, Chatterjee N, Malats N, Wu X, Figueroa JD, Real FX, Van Den Berg D, Matullo G, Baris D, Thun M, Kiemeney LA, Vineis P, De Vivo I, Albanes D, Purdue MP, Rafnar T, Hildebrandt MA, Kiltie AE, Cussenot O, Golka K, Kumar R, Taylor JA, Mayordomo JI, Jacobs KB, Kogevinas M, Hutchinson A, Wang Z, Fu YP, Prokunina-Olsson L, Burdett L, Yeager M, Wheeler W, Tardon A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Andriole G Jr, Grubb R 3rd, Black A, Jacobs EJ, Diver WR, Gapstur SM, Weinstein SJ, Virtamo J, Cortessis VK, Gago-Dominguez M, Pike MC, Stern MC, Yuan JM, Hunter DJ, McGrath M, Dinney CP, Czerniak B, Chen M, Yang H, Vermeulen SH, Aben KK, Witjes JA, Makkinje RR, Sulem P, Besenbacher S, Stefansson K, Riboli E, Brennan P, Panico S, Navarro C, Allen NE, Bueno-de-Mesquita HB, Trichopoulos D, Caporaso N, Landi MT, Canzian F, Ljungberg B, Tjonneland A, Clavel-Chapelon F, Bishop DT, Teo MT, Knowles MA, Guarrera S, Polidoro S, Ricceri F, Sacerdote C, Allione A, Cancel-Tassin G, Selinski S, Hengstler JG, Dietrich H, Fletcher T, Rudnai P, Gurzau E, Koppova K, Bolick SC, Godfrey A, Xu Z, Sanz-Velez JI, D Garcia-Prats M, Sanchez M, Valdivia G, Porru S, Benhamou S, Hoover RN, Fraumeni JF Jr, Silverman DT, Chanock SJ", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24807418", "type": "PubMed", "id": "24807418" } ], "title": "A high-coverage shRNA screen identifies TMEM129 as an E3 ligase involved in ER-associated protein degradation.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "Chen S., Kremmer E., Wiertz E.J., Lebbink R.J., Weissman J.S., Hoeben R.C., Ressing M.E., Bassik M.C., Hoelen H., Leproust E.M., Lohuis M.A., Luteijn R.D., McManus M.T., Patena W., Voorburg C.M., van de Weijer M.L.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25030448", "type": "PubMed", "id": "25030448" } ], "title": "TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for virus-induced degradation of MHC-I.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "van den Boomen DJ, Timms RT, Grice GL, Stagg HR, Skodt K, Dougan G, Nathan JA, Lehner PJ", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26210183", "type": "PubMed", "id": "26210183" } ], "title": "Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I.", "journal": "Molecular immunology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "van den Boomen DJ, Lehner PJ", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27854284", "type": "PubMed", "id": "27854284" } ], "title": "The E3 Ubiquitin Ligase TMEM129 Is a Tri-Spanning Transmembrane Protein.", "journal": "Viruses", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "van de Weijer ML, van Muijlwijk GH, Visser LJ, Costa AI, Wiertz EJ, Lebbink RJ", "date": "2016" } ], "uniprot_ac": "A0AVI4", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVI4", "type": "synonym", "resource": "RefSeq", "name": "D4S2561E" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVI4", "type": "synonym", "resource": "RefSeq", "name": "TMEM129" }, { "url": "https://www.uniprot.org/uniprot/A0AVI4", "type": "recommended", "resource": "UniProtKB", "name": "TMEM129" } ], "reactions": [ { "output_participant_list": [], "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943080", "id": "R-HSA-8943080", "database": "Reactome" } ], "name": "TMEM129 polyubiquitinates HLA (MHC class I heavy chain) bound to cytomegalovirus US11", "cellular_location": "extracellular region", "equation": "", "input_participant_list": [], "enzyme_list": [ "P55072-1", "A0AVI4-1", "Q8N2K1-1" ], "id": "R-HSA-8943080", "summary": "The E3 ubiquitin ligase TMEM129 transfers ubiquitin from the E2 ubiquitin conjugases UBE2J2 and UBE2K to a MHC class I heavy chain bound by the human cytomegalovirus US11 protein (van de Weijer et al. 2014, van den Boomen et al. 2014, Flierman et al. 2006, reviewed in van den Boomen and Lehner 2015). TMEM129 is located in the endoplasmic reticulum membrane in a complex containing DERL1, UBE2J2 and UBE2K, VIMP and VCP. After polyubiquitination, MHC class I heavy chain is retrotranslocated by the AAA ATPase VCP to the cytosol (Ye et al. 2001) where it is deglycosylated by NGLYI and degraded by the proteasome (Wiertz et al. 1996). US11 is released after the reaction and, if unable to bind another MHC I heavy chain, US11 is ubiquitinated by the HRD1-SEL1L E3 ubiquitin ligase complex and itself degraded by the proteasome (van den Boomen et al. 2014). This self-regulatory loop allows the amount of US11 in the cell to be buffered against the amount of MHC I molecules." }, { "output_participant_list": [], "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943083", "id": "R-HSA-8943083", "database": "Reactome" } ], "name": "US11:HLA binds DERL1:TMEM129:Ub:UBE2J2,UBE2K:VIMP:VCP", "cellular_location": "extracellular region", "equation": "", "input_participant_list": [], "enzyme_list": [ "P55072-1", "A0AVI4-1", "Q8N2K1-1" ], "id": "R-HSA-8943083", "summary": "The human cytomegalovirus US11 protein interacts with a MHC class I heavy chain and recruits the heavy chain to the TMEM129 E3 ubiquitin ligase complex comprising TMEM129, its cognate E2 conjugases UBE2J2 and UBE2K and the VCP complex (VCP:VIMP) via the rhomboid pseudo-protease DERL1 (van de Weijer et al. 2014, van den Boomen et al. 2014, Flierman 2006, Lilley et al. 2004, Ye et al. 2004, Ye et al. 2001)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4#A0AVI4-1", "isoform_ac": "A0AVI4-1", "locus": { "end_pos": 1717183, "strand": "+", "start_pos": 1720837, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000536901", "id": "ENST00000536901", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000441812", "id": "ENSP00000441812", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVI4-1|TM129_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKLRAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCLTCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR" } }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#A0AVI4-2", "isoform_ac": "A0AVI4-2", "locus": { "end_pos": 1717413, "strand": "+", "start_pos": 1720837, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000303277", "id": "ENST00000303277", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000305243", "id": "ENSP00000305243", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVI4-2|TM129_HUMAN Isoform 2 of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 232, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWSWRPA" } }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#H7C4G7-1", "isoform_ac": "H7C4G7-1", "locus": { "end_pos": 1719102, "strand": "+", "start_pos": 1720781, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000480360", "id": "ENST00000480360", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417259", "id": "ENSP00000417259", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C4G7-1|TM129_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 92, "sequence": "XVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLVTGPTPNVDYYFLPTGTCWCNSSPSPWLIWTFKLSSIWPAGP" } }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#H7C4I8-1", "isoform_ac": "H7C4I8-1", "locus": { "end_pos": 1718152, "strand": "+", "start_pos": 1718235, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000460722", "id": "ENST00000460722", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417412", "id": "ENSP00000417412", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C4I8-1|TM129_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 28, "sequence": "XSPDSNLPVQLLTIRVASTNPAVQAFDI" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:92305", "resource": "KEGG Pathway", "id": "hsa:92305", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654", "description": "E3 ubiquitin ligases ubiquitinate target proteins", "resource": "Reactome", "id": "R-HSA-8866654", "name": "E3 ubiquitin ligases ubiquitinate target proteins" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4#function", "annotation": "E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4#function", "id": "A0AVI4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "annotation": "TMEM129 contains an unusual cysteine-only RING with intrinsic E3 ligase activity and is recruited to US11 via Derlin-1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "annotation": "TMEM129 is an integral part of the Endoplasmic Reticulum-resident dislocation complex mediating US11-induced HLA class I degradation. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "annotation": "TRC8 and TMEM129 are endoplasmic reticulum-associated degradation ubiquitin E3 ligases for viral and cellular targeting of MHC class I. (Review) Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "annotation": "This insertion in the endoplasmic reticulum membrane positions the C-terminal really interesting new gene (RING) domain of TMEM129 in the cytosol, making it available to catalyze ubiquitination reactions that are required for cytosolic degradation of secretory proteins. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B1WBR6-1", "protein_name": "Tmem129 protein", "sequence": { "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFYSAGLTVQNLLSGWLGSEDAAFVPYHLRRTSATLLCHSLLPLGYYMGMCFAASEKQLYSPGQAPEAWQLFLLLAVTLPLVSCTLIYYWSWDRWARHPLAQTLALYALPQSGWQAVASSINTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHDLSPDSNLPVQLLTIHVASTSPGAQPFDIRLNSSEYGELCEKLRAPIRSAANVVIRQSLGDLFLETFASLVEVNPAYSAPSNQELEACIGCMQTRASVKLVKTCQEPAVGECQQCYCRPMWCLTCMGKWFASRQDPQRPDTWLASRVPCPTCRARFCILDVCCVR" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/44528", "id": "44528", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Tmem129", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8K304-1", "protein_name": "E3 ubiquitin-protein ligase TM129", "sequence": { "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFYSAGLTVQNLLSGWLGSEDAAFVPYHLRRTSATLLCHSLLPLGYYMGMCFAASEKQLYSPGQAPEAWQLFLLLAVTLPLLSCTLIYYWSWDRWTRHPLAQTLALYALPQSGWQAVASSINTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHDLSPDSNLPVQLLTIRVASTSPGTQPFDIRLNSSEYGELCEKLHAPIRSAANVVIRQSLGDLFLETFASHVEVNPAYSVPSNQELEPCIGCMQTRASVKLVKTCQEPAVGECQQCYCRPMWCLTCMGKWFASRQDPQRPDTWLASRVPCPTCRARFCILDVCCVR" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/44528", "id": "44528", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Tmem129", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "P", "start_pos": 206, "alt_nt": "A", "chr_id": "4", "subjects_positive": "1", "chr_pos": "1719943", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 206, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "C", "start_pos": 322, "alt_nt": "T", "chr_id": "4", "subjects_positive": "1", "chr_pos": "1719031", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 322, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "L", "start_pos": 356, "alt_nt": "G", "chr_id": "4", "subjects_positive": "1", "chr_pos": "1718929", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 356, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "G", "start_pos": 42, "alt_nt": "G", "chr_id": "4", "subjects_positive": "1", "chr_pos": "1722441", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 42, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "A", "start_pos": 58, "alt_nt": "T", "chr_id": "4", "subjects_positive": "1", "chr_pos": "1722393", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 58, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "F", "start_pos": 8, "alt_nt": "T", "chr_id": "4", "subjects_positive": "1", "chr_pos": "1722542", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 8, "minor_allelic_frequency": "", "ref_nt": "A" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "ac": "NP_001120738.1", "name": "E3 ubiquitin-protein ligase TM129 isoform a", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "ubiquitin protein ligase activity", "id": "GO:0061630" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "pmid": "24807418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "ubiquitin protein ligase activity", "id": "GO:0061630" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "metal ion binding", "id": "GO:0046872" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "24807418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "pmid": "24807418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "protein polyubiquitination", "id": "GO:0000209" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030433", "pmid": "24807418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "ubiquitin-dependent ERAD pathway", "id": "GO:0030433" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030970", "pmid": "24807418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "retrograde protein transport, ER to cytosol", "id": "GO:0030970" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "protein ubiquitination", "id": "GO:0016567" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "response to unfolded protein", "id": "GO:0006986" } ], "total": 5, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 231, "annotation": "n_glycosylation_sequon", "start_pos": 229 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM129", "id": "TMEM129", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/92305", "id": "92305", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25137", "id": "25137", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AVI4*", "id": "A0AVI4", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018801", "id": "IPR018801", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:92305", "id": "hsa:92305", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/615975", "id": "615975", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A0AVI4", "id": "NX_A0AVI4", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/VIATENW/", "id": "VIATENW", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=647242at2759", "id": "647242at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31322", "id": "PTHR31322", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF10272", "id": "PF10272", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A0AVI4", "id": "A0AVI4", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0AVI4", "id": "PR_A0AVI4", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654", "id": "R-HSA-8866654", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738", "id": "NP_001120738", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0AVI4-1", "id": "A0AVI4-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0AVI4-2", "id": "A0AVI4-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C4G7", "id": "H7C4G7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C4G7-1", "id": "H7C4G7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C4I8", "id": "H7C4I8", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C4I8-1", "id": "H7C4I8-1", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3907", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "", "name": "Epidermoid cell carcinoma of the lung", "id": "DOID:3907" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "name": "lung squamous cell carcinoma", "id": "DOID:3907" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3910", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "nonsmall cell adenocarcinoma", "id": "DOID:3910" }, { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "bronchogenic lung adenocarcinoma", "id": "DOID:3910" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "A lung cancer that derives_from epithelial cells of glandular origin.", "name": "lung adenocarcinoma", "id": "DOID:3910" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4", "id": "A0AVI4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "Yes" } ], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 40464.0, "chemical_mass": 40464.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936", "id": "ENSG00000168936", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "name": "TMEM129", "locus": { "end_pos": 1715952, "strand": "-", "start_pos": 1721358, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000168936", "id": "ENSG00000168936", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "2.3.2.27" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVI4", "type": "synonym", "resource": "RefSeq", "name": "E3 ubiquitin-protein ligase TM129 isoform a" }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "E3 ubiquitin-protein ligase TM129" }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "RING-type E3 ubiquitin transferase TM129" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVI4", "type": "synonym", "resource": "RefSeq", "name": "transmembrane protein 129, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase TM129; RING-type E3 ubiquitin transferase TM129" } ] }