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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75095", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75095" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75095", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75095" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "O75095", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75095" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75095", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75095" } ], "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": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C557-1", "url": "https://www.uniprot.org/uniprot/H7C557-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5N9", "url": "https://www.uniprot.org/uniprot/H7C5N9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5N9-1", "url": "https://www.uniprot.org/uniprot/H7C5N9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75095", "url": "https://www.uniprot.org/uniprot/O75095", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75095-1", "url": "https://www.uniprot.org/uniprot/O75095-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75095-2", "url": "https://www.uniprot.org/uniprot/O75095-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSFLEEARAAGRAVVLALVLLLLPAVPVGASVPPRPLLPLQPGMPHVCAEQELTLVGRRQPCVQALSHTVPVWKAGCGWQAWCVGHERRTVYYMGYRQVYTTEARTVLRCCRGWMQQPDEEGCLSAECSASLCFHGGRCVPGSAQPCHCPPGFQGPRCQYDVDECRTHNGGCQHRCVNTPGSYLCECKPGFRLHTDSRTCLAINSCALGNGGCQHHCVQLTITRHRCQCRPGFQLQEDGRHCVRRSPCANRNGSCMHRCQVVRGLARCECHVGYQLAADGKACEDVDECAAGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEANNGGCSHGCSHTSAGPLCTCPRGYELDTDQRTCIDVDDCADSPCCQQVCTNNPGGYECGCYAGYRLSADGCGCEDVDECASSRGGCEHHCTNLAGSFQCSCEAGYRLHEDRRGCSPLEEPMVDLDGELPFVRPLPHIAVLQDELPQLFQDDDVGADEEEAELRGEHTLTEKFVCLDDSFGHDCSLTCDDCRNGGTCLLGLDGCDCPEGWTGLICNETCPPDTFGKNCSFSCSCQNGGTCDSVTGACRCPPGVSGTNCEDGCPKGYYGKHCRKKCNCANRGRCHRLYGACLCDPGLYGRFCHLTCPPWAFGPGCSEECQCVQPHTQSCDKRDGSCSCKAGFRGERCQAECELGYFGPGCWQACTCPVGVACDSVSGECGKRCPAGFQGEDCGQECPVGTFGVNCSSSCSCGGAPCHGVTGQCRCPPGRTGEDCEADCPEGRWGLGCQEICPACQHAARCDPETGACLCLPGFVGSRCQDVCPAGWYGPSCQTRCSCANDGHCHPATGHCSCAPGWTGFSCQRACDTGHWGPDCSHPCNCSAGHGSCDAISGLCLCEAGYVGPRCEQQCPQGHFGPGCEQRCQCQHGAACDHVSGACTCPAGWRGTFCEHACPAGFFGLDCRSACNCTAGAACDAVNGSCLCPAGRRGPRCAETCPAHTYGHNCSQACACFNGASCDPVHGQCHCAPGWMGPSCLQACPAGLYGDNCRHSCLCQNGGTCDPVSGHCACPEGWAGLACEKECLPRDVRAGCRHSGGCLNGGLCDPHTGRCLCPAGWTGDKCQSPCLRGWFGEACAQRCSCPPGAACHHVTGACRCPPGFTGSGCEQACPPGSFGEDCAQMCQCPGENPACHPATGTCSCAAGYHGPSCQQRCPPGRYGPGCEQLCGCLNGGSCDAATGACRCPTGFLGTDCNLTCPQGRFGPNCTHVCGCGQGAACDPVTGTCLCPPGRAGVRCERGCPQNRFGVGCEHTCSCRNGGLCHASNGSCSCGLGWTGRHCELACPPGRYGAACHLECSCHNNSTCEPATGTCRCGPGFYGQACEHPCPPGFHGAGCQGLCWCQHGAPCDPISGRCLCPAGFHGHFCERGCEPGSFGEGCHQRCDCDGGAPCDPVTGLCLCPPGRSGATCNLDCRRGQFGPSCTLHCDCGGGADCDPVSGQCHCVDGYMGPTCREGGPLRLPENPSLAQGSAGTLPASSRPTSRSGGPARH", "length": 1541, "header": "sp|O75095-1|MEGF6_HUMAN Isoform 1 of Multiple epidermal growth factor-like domains protein 6 OS=Homo sapiens OX=9606 GN=MEGF6 PE=1 SV=4 CANONICAL=O75095-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TL19-1", "url": "", "sequence": { "sequence": "MGASRDRGLAALWCLGLLGGLARVAGTHYRYLWRGCYPCHLGQAGYPVSAGDQRPDVDECRTHNGGCQHRCVNTPGSYLCECKPGFRLHTDSRTCLAINSCALGNGGCQHHCVQLTITRHRCQCRPGFQLQEDGRHCVRRSPCANRNGSCMHRCQVVRGLARCECHVGYQLAADGKACEDVDECAAGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEANNGGCSHGCSHTSAGPLCTCPRGYELDTDQRTCIDVDDCADSPCCQQVCTNNPGGYECGCYAGYRLSADGCGCEDVDECASSRGGCEHHCTNLAGSFQCSCEAGYRLHEDRRGCSPLEEPMVDLDGELPFVRPLPHIAVLQDELPQLFQDDDVGADEEEAELRGEHTLTEKFVCLDDSFGHDCSLTCDDCRNGGTCLLGLDGCDCPEGWTGLICNETCPPDTFGKNCSFSCSCQNGGTCDSVTGACRCPPGVSGTNCEDGCPKGYYGKHCRKKCNCANRGRCHRLYGACLCDPGLYGRFCHLTCPPWAFGPGCSEECQCVQPHTQSCDKRDGSCSCKAGFRGERCQAECELGYFGPGCWQACTCPVGVACDSVSGECGKRCPAGFQGEDCGQECPVGTFGVNCSSSCSCGGAPCHGVTGQCRCPPGRTGEDCEADCPEGRWGLGCQEICPACQHAARCDPETGACLCLPGFVGSRCQDVCPAGWYGPSCQTRCSCANDGHCHPATGHCSCAPGWTGFSCQRACDTGHWGPDCSHPCNCSAGHGSCDAISGLCLCEAGYVGPRCEQQCPQGHFGPGCEQRCQCQHGAACDHVSGACTCPAGWRGTFCEHACPAGFFGLDCRSACNCTAGAACDAVNGSCLCPAGRRGPRCAETCPAHTYGHNCSQACACFNGASCDPVHGQCHCAPGWMGPSCLQACPAGLYGDNCRHSCLCQNGGTCDPVSGHCACPEGWAGLACEKECLPRDVRAGCRHSGGCLNGGLCDPHTGRCLCPAGWTGDKCQSPCLRGWFGEACAQRCSCPPGAACHHVTGACRCPPGFTGSGCEQACPPGSFGEDCAQMCQCPGENPACHPATGTCSCAAGYHGPSCQQRCPPGRYGPGCEQLCGCLNGGSCDAATGACRCPTGFLGTDCNLTCPQGRFGPNCTHVCGCGQGAACDPVTGTCLCPPGRAGVRCERGCPQNRFGVGCEHTCSCRNGGLCHASNGSCSCGLGWTGRHCELACPPGRYGAACHLECSCHNNSTCEPATGTCRCGPGFYGQACEHPCPPGFHGAGCQGLCWCQHGAPCDPISGRCLCPAGFHGHFCERGCEPGSFGEGCHQRCDCDGGAPCDPVTGLCLCPPGRSGATCNLDCRRGQFGPSCTLHCDCGGGADCDPVSGQCHCVDGYMGPTCREGGPLRLPENPSLAQGSAGTLPASSRPTSRSGGPARH", "length": 1436, "header": "tr|A0A8V8TL19-1|MEGF6_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 6 OS=Homo sapiens OX=9606 GN=MEGF6 PE=1 SV=1 CANONICAL=O75095-1" }, "locus": { "chromosome": "1", "start_pos": 3531245, "end_pos": 3490531, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697102.1", "url": "https://www.ensembl.org/id/ENST00000697102.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513108.1", "url": "https://www.ensembl.org/id/ENSP00000513108.1" } ] } }, { "isoform_ac": "H7C557-1", "url": "", "sequence": { "sequence": "MSFLEEARAAGRAVVLALVLLLLPAVPVGASVPPRPLLPLQPGMPHVCAEQELTLVGRRQPCVQALSHTVPVWKAGCGWQAWCVGHERRTVYYMGYRQVYTTEARTVLRCCRGWMQQPDEEGCLSDVGECANANGGCAGRCRDTVGGFYCRWPPPSHQLQGDGETCQDVDECRTHNGGCQHRCVNTPGSYLCECKPGFRLHTDSRTCLAINSCALGNGGCQHHCVQLTITRHRCQCRPGFQLQEDGRHCVRRSPCANRNGSCMHRCQVVRGLARCECHVGYQLAADGKACEDVDECAAGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEANNGGCSHGCSHTSAGPLCTCPRGYELDTDQRTCIDVDDCADSPCCQQVCTNNPGGYECGCYAGYRLSADGCGCEDVDECASSRGGCEHHCTNLAGSFQCSCEAGYRLHEDRRGCSPLEEPMVDLDGELPFVRPLPHIAVLQDELPQLFQDDDVGADEEEAELRGEHTLTEKFVCLDDSFGHDCSLTCDDCRNGGTCLLGLDGCDCPEGWTGLICNETCPPDTFGKNCSFSCSCQNGGTCDSVTGACRCPPGVSGTNCEDGCPKGYYGKHCRKKCNCANRGRCHRLYGACLCDPGLYGRFCHLTCPPWAFGPGCSEECQCVQPHTQSCDKRDGSCSCKAGFRGERCQAECELGYFGPGCWQACTCPVGVACDSVSGECGKRCPAGFQGEDCGQECPVGTFGVNCSSSCSCGGAPCHGVTGQCRCPPGRTGEDCEADCPEGRWGLGCQEICPACQHAARCDPETGACLCLPGFVGSRCQDVCPAGWYGPSCQTRCSCANDGHCHPATGHCSCAPGWTGFSCQRACDTGHWGPDCSHPCNCSAGHGSCDAISGLCLCEAGYVGPRCEQQCPQGHFGPGCEQRCQCQHGAACDHVSGACTCPAGWRGTFCEHACPAGFFGLDCRSACNCTAGAACDAVNGSCLCPAGRRGPRCAETCPAHTYGHNCSQACACFNGASCDPVHGQCHCAPGWMGPSCLQACPAGLYGDNCRHSCLCQNGGTCDPVSGHCACPEGWAGLACEKECLPRDVRAGCRHSGGCLNGGLCDPHTGRCLCPAGWTGDKCQSPCAKGTFGPHCEGRCACRWGGPCHLATGACLCPPGWRGAPGVRMPACGAGLERPVPSAAAARLALPATTSLGPAAVPLASLAPAASRPAHPAALGRTVRRCASVPVRTRPATLPPGPAHVLLATTAPAASNDVRPGGMGQAVNSCVGVSTGAPVMRPRGPAAAPLGSSGRTATSPVRRAASAPTAPTCVGVGRGRPATL", "length": 1323, "header": "tr|H7C557-1|MEGF6_HUMAN Computationally mapped isoform of Multiple epidermal growth factor-like domains protein 6 OS=Homo sapiens OX=9606 GN=MEGF6 PE=1 SV=2 CANONICAL=O75095-1" }, "locus": { "chromosome": "1", "start_pos": 3611268, "end_pos": 3495944, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000485002.6", "url": "https://www.ensembl.org/id/ENST00000485002.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000419033.2", "url": "https://www.ensembl.org/id/ENSP00000419033.2" } ] } }, { "isoform_ac": "H7C5N9-1", "url": "", "sequence": { "sequence": "XDAATGACRCPTGFLGTDCNLTCPQGRFGPNCTHVCGCGQGAACDPVTGTCLCPPGRAGVRCERGCPQNRFGVGCEHTCSCRNGGLCHASNGSCSCGLGWTGRHCELACPPGRYGAACHLECSCHNNSTCEPATGTCRCGPGFYGQACEHPCPPGFHGAGCQGLCWCQHGAPCDPISGRCLCPAGFHGHFCERDCRRGQFGPSCTLHCDCGGGADCDPVSGQCHCVDGYMGPTCREGGPLRLPENPSL", "length": 248, "header": "tr|H7C5N9-1|H7C5N9_HUMAN Computationally mapped isoform of Multiple EGF like domains 6 OS=Homo sapiens OX=9606 GN=MEGF6 PE=1 SV=1 CANONICAL=O75095-1" }, "locus": { "chromosome": "1", "start_pos": 3496717, "end_pos": 3490925, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491842.1", "url": "https://www.ensembl.org/id/ENST00000491842.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420386.1", "url": "https://www.ensembl.org/id/ENSP00000420386.1" } ] } }, { "isoform_ac": "O75095-1", "url": "", "sequence": { "sequence": "MSFLEEARAAGRAVVLALVLLLLPAVPVGASVPPRPLLPLQPGMPHVCAEQELTLVGRRQPCVQALSHTVPVWKAGCGWQAWCVGHERRTVYYMGYRQVYTTEARTVLRCCRGWMQQPDEEGCLSAECSASLCFHGGRCVPGSAQPCHCPPGFQGPRCQYDVDECRTHNGGCQHRCVNTPGSYLCECKPGFRLHTDSRTCLAINSCALGNGGCQHHCVQLTITRHRCQCRPGFQLQEDGRHCVRRSPCANRNGSCMHRCQVVRGLARCECHVGYQLAADGKACEDVDECAAGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEANNGGCSHGCSHTSAGPLCTCPRGYELDTDQRTCIDVDDCADSPCCQQVCTNNPGGYECGCYAGYRLSADGCGCEDVDECASSRGGCEHHCTNLAGSFQCSCEAGYRLHEDRRGCSPLEEPMVDLDGELPFVRPLPHIAVLQDELPQLFQDDDVGADEEEAELRGEHTLTEKFVCLDDSFGHDCSLTCDDCRNGGTCLLGLDGCDCPEGWTGLICNETCPPDTFGKNCSFSCSCQNGGTCDSVTGACRCPPGVSGTNCEDGCPKGYYGKHCRKKCNCANRGRCHRLYGACLCDPGLYGRFCHLTCPPWAFGPGCSEECQCVQPHTQSCDKRDGSCSCKAGFRGERCQAECELGYFGPGCWQACTCPVGVACDSVSGECGKRCPAGFQGEDCGQECPVGTFGVNCSSSCSCGGAPCHGVTGQCRCPPGRTGEDCEADCPEGRWGLGCQEICPACQHAARCDPETGACLCLPGFVGSRCQDVCPAGWYGPSCQTRCSCANDGHCHPATGHCSCAPGWTGFSCQRACDTGHWGPDCSHPCNCSAGHGSCDAISGLCLCEAGYVGPRCEQQCPQGHFGPGCEQRCQCQHGAACDHVSGACTCPAGWRGTFCEHACPAGFFGLDCRSACNCTAGAACDAVNGSCLCPAGRRGPRCAETCPAHTYGHNCSQACACFNGASCDPVHGQCHCAPGWMGPSCLQACPAGLYGDNCRHSCLCQNGGTCDPVSGHCACPEGWAGLACEKECLPRDVRAGCRHSGGCLNGGLCDPHTGRCLCPAGWTGDKCQSPCLRGWFGEACAQRCSCPPGAACHHVTGACRCPPGFTGSGCEQACPPGSFGEDCAQMCQCPGENPACHPATGTCSCAAGYHGPSCQQRCPPGRYGPGCEQLCGCLNGGSCDAATGACRCPTGFLGTDCNLTCPQGRFGPNCTHVCGCGQGAACDPVTGTCLCPPGRAGVRCERGCPQNRFGVGCEHTCSCRNGGLCHASNGSCSCGLGWTGRHCELACPPGRYGAACHLECSCHNNSTCEPATGTCRCGPGFYGQACEHPCPPGFHGAGCQGLCWCQHGAPCDPISGRCLCPAGFHGHFCERGCEPGSFGEGCHQRCDCDGGAPCDPVTGLCLCPPGRSGATCNLDCRRGQFGPSCTLHCDCGGGADCDPVSGQCHCVDGYMGPTCREGGPLRLPENPSLAQGSAGTLPASSRPTSRSGGPARH", "length": 1541, "header": "sp|O75095-1|MEGF6_HUMAN Isoform 1 of Multiple epidermal growth factor-like domains protein 6 OS=Homo sapiens OX=9606 GN=MEGF6 PE=1 SV=4 CANONICAL=O75095-1" }, "locus": { "chromosome": "1", "start_pos": 3611268, "end_pos": 3490531, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356575.9", "url": "https://www.ensembl.org/id/ENST00000356575.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000348982.4", "url": "https://www.ensembl.org/id/ENSP00000348982.4" } ] } }, { "isoform_ac": "O75095-2", "url": "", "sequence": { "sequence": "MGASRDRGLAALWCLGLLGGLARVAGTHYRYLWRGCYPCHLGQAGYPVSAGDQRPDVDECRTHNGGCQHRCVNTPGSYLCECKPGFRLHTDSRTCLAINSCALGNGGCQHHCVQLTITRHRCQCRPGFQLQEDGRHCVRRSPCANRNGSCMHRCQVVRGLARCECHVGYQLAADGKACEDVDECAAGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEANNGGCSHGCSHTSAGPLCTCPRGYELDTDQRTCIDVDDCADSPCCQQVCTNNPGGYECGCYAGYRLSADGCGCEDVDECASSRGGCEHHCTNLAGSFQCSCEAGYRLHEDRRGCSPLEEPMVDLDGELPFVRPLPHIAVLQDELPQLFQDDDVGADEEEAELRGEHTLTEKFVCLDDSFGHDCSLTCDDCRNGGTCLLGLDGCDCPEGWTGLICNETCPPDTFGKNCSFSCSCQNGGTCDSVTGACRCPPGVSGTNCEDGCPKGYYGKHCRKKCNCANRGRCHRLYGACLCDPGLYGRFCHLTCPPWAFGPGCSEECQCVQPHTQSCDKRDGSCSCKAGFRGERCQAECELGYFGPGCWQACTCPVGVACDSVSGECGKRCPAGFQGEDCGQECPVGTFGVNCSSSCSCGGAPCHGVTGQCRCPPGRTGEDCEADCPEGRWGLGCQEICPACQHAARCDPETGACLCLPGFVGSRCQDVCPAGWYGPSCQTRCSCANDGHCHPATGHCSCAPGWTGFSCQRACDTGHWGPDCSHPCNCSAGHGSCDAISGLCLCEAGYVGPRCEQQCPQGHFGPGCEQRCQCQHGAACDHVSGACTCPAGWRGTFCEHACPAGFFGLDCRSACNCTAGAACDAVNGSCLCPAGRRGPRCAEKCLPRDVRAGCRHSGGCLNGGLCDPHTGRCLCPAGWTGDKCQSPCLRGWFGEACAQRCSCPPGAACHHVTGACRCPPGFTGSGCEQGCPPGRYGPGCEQLCGCLNGGSCDAATGACRCPTGFLGTDCNLTCPQGRFGPNCTHVCGCGQGAACDPVTGTCLCPPGRAGVRCERGCPQNRFGVGCEHTCSCRNGGLCHASNGSCSCGLGWTGRHCELACPPGRYGAACHLECSCHNNSTCEPATGTCRCGPGFYGQACEHRRSGATCNLDCRRGQFGPSCTLHCDCGGGADCDPVSGQCHCVDGYMGPTCREGGPLRLPENPSLAQGSAGTLPASSRPTSRSGGPARH", "length": 1229, "header": "sp|O75095-2|MEGF6_HUMAN Isoform 2 of Multiple epidermal growth factor-like domains protein 6 OS=Homo sapiens OX=9606 GN=MEGF6 PE=1 SV=4 CANONICAL=O75095-1" }, "locus": { "chromosome": "1", "start_pos": 3531245, "end_pos": 3490531, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000294599.8", "url": "https://www.ensembl.org/id/ENST00000294599.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000294599.4", "url": "https://www.ensembl.org/id/ENSP00000294599.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1524, "start_aa": "Thr", "end_pos": 1524, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1524", "evidence": [ { "id": "O75095", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "O-glucosylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-glucosylation", "start_pos": 182, "start_aa": "Ser", "end_pos": 182, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser182", "evidence": [ { "id": "PRU00076", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00076" }, { "id": "GLY_000716", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000716" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "O75095", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75095#ptm_processing" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "O-glucosylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-glucosylation", "start_pos": 306, "start_aa": "Ser", "end_pos": 306, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser306", "evidence": [ { "id": "PRU00076", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00076" }, { "id": "GLY_000716", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000716" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 739, "start_aa": "Asn", "end_pos": 739, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn739", "evidence": [ { "id": "O75095", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75095#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "MEGF6 Promotes the Epithelial-to-Mesenchymal Transition via the TGFbeta/SMAD Signaling Pathway in Colorectal Cancer Metastasis.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2018", "authors": "Hu H, Wang M, Wang H, Liu Z, Guan X, Yang R, Huang R, Tang Q, Zou C, Wang G, Gao X, Wang X", "evidence": [ { "database": "RefSeq", "id": "NP_001400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001400" } ], "reference": [ { "type": "PubMed", "id": "29719292", "url": "https://glygen.org/publication/PubMed/29719292" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O75095", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "A role for the MEGF6 gene in predisposition to osteoporosis.", "journal": "Annals of human genetics", "date": "2021", "authors": "Teerlink CC, Jurynec MJ, Hernandez R, Stevens J, Hughes DC, Brunker CP, Rowe K, Grunwald DJ, Facelli JC, Cannon-Albright LA", "evidence": [ { "database": "RefSeq", "id": "NP_001400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001400" } ], "reference": [ { "type": "PubMed", "id": "33026655", "url": "https://glygen.org/publication/PubMed/33026655" } ] }, { "title": "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening.", "journal": "Genomics", "date": "1998", "authors": "Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O", "evidence": [ { "database": "UniProtKB", "id": "O75095", "url": "https://www.uniprot.org/uniprot/O75095" } ], "reference": [ { "type": "PubMed", "id": "9693030", "url": "https://glygen.org/publication/PubMed/9693030" } ] } ], "pathway": [ { "id": "hsa:1953", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1953", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O88281-1", "protein_name": "Multiple epidermal growth factor-like domains protein 6", "gene_name": "Megf6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPVRAEARAAWRVVALALLLLPAMPAASPPLTPRPLQPSMPHVCAEQKLTLVGHRQPCVQAFSRIVPVWRRTGCAQQAWCIGQERRTVYYMSYRQVYATEARTVFRCCPGWSQKPGQEGCLSDVDECASANGGCEGPCCNTVGGFYCRCPPGYQLQGDGKTCQDVDECRAHNGGCQHRCVNTPGSYLCECKPGFRLHTDGRTCLAISSCTLGNGGCQHQCVQLTVTQHRCQCRPQYQLQEDGRRCVRRSPCAEGNGGCMHICQELRGLAHCGCHPGYQLAADRKTCEDVDECALGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEAGNGGCSHGCSHTSTGPLCTCPRGYELDEDQKTCIDIDDCANSPCCQQACANTPGGYECSCFAGYRLNTDGCGCEDVDECASGHGGCEHHCSNLAGSFQCFCEAGYRLDEDRRGCTSLEESVVDLDGRLPFVRPLPHIAVLRDELPRLFQDDYGAEEEAAAAELRGEHTLTEKFVCLDHSFGHDCSLTCDDCRNGGTCFPGQDGCDCPEGWTGIICNETCPPDTFGKNCSSPCTCQNGGTCDPVLGACRCPPGVSGAHCEDGCPKGFYGKHCRKKCHCANRGRCHRLYGACLCDPGLYGRFCHLACPPWAFGPGCSEDCLCEQSHTRSCNPKDGSCSCKAGFQGERCQAECESGFFGPGCRHRCTCQPGVACDPVSGECRTQCPPGYQGEDCGQECPVGTFGVNCSGSCSCVGAPCHRVTGECLCPPGKTGEDCGADCPEGRWGLGCQEICPACEHGASCNPETGTCLCLPGFVGSRCQDTCSAGWYGTGCQIRCACANDGHCDPTTGRCSCAPGWTGLSCQRACDSGHWGPDCIHPCNCSAGHGNCDAVSGLCLCEAGYEGPRCEQSCRQGYYGPSCEQKCRCEHGAACDHVSGACTCPAGWRGSFCEHACPAGFFGLDCDSACNCSAGAPCDAVTGSCICPAGRWGPRCAQSCPPLTFGLNCSQICTCFNGASCDSVTGQCHCAPGWMGPTCLQACPPGLYGKNCQHSCLCRNGGRCDPILGQCTCPEGWTGLACENECLPGHYAAGCQLNCSCLHGGICDRLTGHCLCPAGWTGDKCQSSCVSGTFGVHCEEHCACRKGASCHHVTGACFCPPGWRGPHCEQACPRGWFGEACAQRCLCPTNASCHHVTGECRCPPGFTGLSCEQACQPGTFGKDCEHLCQCPGETWACDPASGVCTCAAGYHGTGCLQRCPSGRYGPGCEHICKCLNGGTCDPATGACYCPAGFLGADCSLACPQGRFGPSCAHVCACRQGAACDPVSGACICSPGKTGVRCEHGCPQDRFGKGCELKCACRNGGLCHATNGSCSCPLGWMGPHCEHACPAGRYGAACLLECFCQNNGSCEPTTGACLCGPGFYGQACEHSCPSGFHGPGCQRVCECQQGAPCDPVSGQCLCPAGFHGQFCEKGCESGSFGDGCLQQCNCHTGVPCDPISGLCLCPPGRTGAACDLDCRRGRFGPGCALRCDCGGGADCDPISGQCHCVDSYMGPTCREVPTQISSSRPAPQHPSSRAMKH", "length": 1574 }, "evidence": [ { "id": "45923115", "url": "http://www.informatics.jax.org/homology/45923115", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80V70-1", "protein_name": "Multiple epidermal growth factor-like domains protein 6", "gene_name": "Megf6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPVGVEARASWRVVALTLLLLPAVPAASQPLPPRPLQPSMPHVCAEQKLTLVGHRQPCVQAFSRVVPVWRSGCGQQAWCVGQERRTVYYMSYRQVYATEARTVFRCCPGWSQKPGQEGCLSDVDECANANGGCEGPCCNTVGGFYCRCPPGYQLQGDGKTCQDVDECRSHNGGCQHRCVNTPGSYLCECKPGFRLHTDGRTCLAISSCTLGNGGCQHQCVQLTVTQHRCQCRPQYQLQEDGRRCVRRSPCADGNGGCMHTCQELRGLAHCGCHPGYQLAADRKACEDVDECALGLAQCAHGCLNTQGSFKCVCHAGYELGADGRQCYRIEMEIVNSCEAGNGGCSHGCSHTSTGPLCTCPRGYELDEDQKTCIDIDDCANSPCCQQVCANTPGGYECSCFAGYRLNTDGCGCEDVDECASGHSGCEHHCSNLAGSFQCFCEAGYRLDEDRRGCTPLEESVVDLDGQLPFVRPLPHIAVLGDELPQLFQDDYGAEEEAVAELRGEHTLTEKFVCLDHSFGHDCSLTCDDCRNGGTCFPGLDGCDCPEGWTGIICNETCPPDTFGKNCSSPCICQNGGTCDPVSGACRCPPGVSGAHCEDGCPKGFYGKHCRKKCHCANRGRCHRLYGACLCDPGLYGRFCHLACPPWAFGPGCSEDCLCEQSHTRSCNSKDGSCSCKAGFQGERCEAECEPGSFGPGCRNRCTCRPGVACDPVSGECRTQCPPGYQGEDCGQECPVGTFGVNCSGSCSCVGAPCHRVTGECLCPPGKTGEDCGADCPEGRWGLGCQEICPACEHGASCDPETGTCLCLPGFVGSRCQDACPAGWFGTGCQMRCACANDGHCHPATGRCSCAPGWTGLSCQRACDSGHWGPDCIHPCNCSAGHGNCDAVSGLCLCEAGYEGPQCEQWCRQGYFGPGCEQKCRCEHGATCDHVSGACTCPAGWRGSFCEHACPAGFFGLDCGSACNCSAGAPCDAVTGSCICPAGRWGPHCAQTCPPLTFGLNCSQICTCFNGASCDPVLGQCHCAPGWMGPTCLQACPAGLYGKNCQHSCLCRNGGSCDPILGQCTCPEGWTGLACENECLPGHHGAGCRLNCSCLNGGTCDRLTGHCRCPAGWTGDKCQSPCVSGMFGVHCEEHCACRKGATCHHVTGACLCPPGWRGSHCEQACPRGWFGEACAQRCHCPPGASCHHVSGECHCPPGFTGPGCEQACQPGTFGKDCEHPCQCPGETWACHPASGACVCAAGYHGTDCQQRCPSGRYGPGCEQICKCLNGGTCDPATGACYCPAGFLGADCSLACPQGRFGPSCAHVCTCGQGAACDPVSGTCICPPGKTGGHCERGCPQDRFGKGCEHKCACRNGGLCHATNGSCSCPLGWMGPHCEHACPAGRYGAACLLECSCQNNGSCEPTSGACLCGPGFYGQACEDTCPAGFHGSGCQRVCECQQGAPCDPVSGRCLCPAGFRGQFCERGCKPGFFGDGCLQQCNSPTGVPCDPISGLCLCPPGRAGTTCDLDCRRGRFGPGCALRCDCGGGADCDPISGQCHCVDSYTGPTCREVPTQLSSIRPAPQHSSSKAMKH", "length": 1572 }, "evidence": [ { "id": "45923115", "url": "http://www.informatics.jax.org/homology/45923115", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O75095", "url": "https://www.uniprot.org/uniprot/O75095" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O75095", "url": "https://www.uniprot.org/uniprot/O75095" } ], "pmid": "" }, { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "O75095", "url": "https://www.uniprot.org/uniprot/O75095" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "multiple epidermal growth factor-like domains protein 6 O-glycosylated 1 (human)", "definition": "A multiple epidermal growth factor-like domains protein 6 (human) that has been O-glycosylated at the residue equivalent to Thr-1524 of the amino acid sequence represented by UniProtKB:O75095-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75095-1, Thr-1524, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050816", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050816" } ] } ], "site_annotation": [ { "start_pos": 1246, "end_pos": 1248, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1257, "end_pos": 1259, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1317, "end_pos": 1319, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1352, "end_pos": 1354, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1353, "end_pos": 1355, "annotation": "n_glycosylation_sequon" }, { "start_pos": 252, "end_pos": 254, "annotation": "n_glycosylation_sequon" }, { "start_pos": 552, "end_pos": 554, "annotation": "n_glycosylation_sequon" }, { "start_pos": 563, "end_pos": 565, "annotation": "n_glycosylation_sequon" }, { "start_pos": 739, "end_pos": 741, "annotation": "n_glycosylation_sequon" }, { "start_pos": 874, "end_pos": 876, "annotation": "n_glycosylation_sequon" }, { "start_pos": 961, "end_pos": 963, "annotation": "n_glycosylation_sequon" }, { "start_pos": 972, "end_pos": 974, "annotation": "n_glycosylation_sequon" }, { "start_pos": 998, "end_pos": 1000, "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" } ], "sequence_features": { "n_linked_sites": [ 252, 739 ], "o_linked_sites": [ 182, 306, 1524 ], "snv_sites": [ 67, 115, 195, 212, 306, 340, 341, 431, 590, 614, 617, 670, 739, 741, 1009, 1052, 1154, 1311, 1515, 1524 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1246, "end_pos": 1248 }, { "start_pos": 1257, "end_pos": 1259 }, { "start_pos": 1317, "end_pos": 1319 }, { "start_pos": 1352, "end_pos": 1354 }, { "start_pos": 1353, "end_pos": 1355 }, { "start_pos": 252, "end_pos": 254 }, { "start_pos": 552, "end_pos": 554 }, { "start_pos": 563, "end_pos": 565 }, { "start_pos": 739, "end_pos": 741 }, { "start_pos": 874, "end_pos": 876 }, { "start_pos": 961, "end_pos": 963 }, { "start_pos": 972, "end_pos": 974 }, { "start_pos": 998, "end_pos": 1000 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 23 }, { "field": "total_sites", "count": 20 } ], "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 18 }, { "field": "total_sites", "count": 15 } ], "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }