{ "uniprot_canonical_ac": "A5PKW4-1", "ptm_annotation": [], "sequence": { "header": "sp|A5PKW4-1|PSD1_HUMAN Isoform 1 of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=2 CANONICAL=A5PKW4-1", "length": 1024, "sequence": "MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGRELGRVTAPCTPLRGPPSPRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAPGGLSRSWDLGGVSPPRPTPALGPGSNRKLRLEASTSDPLPARGGSALPGSRNLVHGPPAPPQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSPREVSSHAQRIARAKWEFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETDIDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGEEDVDDEVFEASEGARPGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP" }, "uniprot_id": "PSD1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "taxid": 9606, "name": "Homo sapiens", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ] } ], "crossref_internal": { "gene": [ "PSD" ], "species": [ 9606 ], "disease": [ "DOID:1324", "DOID:1793", "DOID:11054", "DOID:263", "DOID:9256", "DOID:2394", "DOID:1781", "DOID:1612", "DOID:10283", "DOID:363", "DOID:4159", "DOID:10534", "DOID:3571", "DOID:3910", "DOID:3907", "DOID:1319", "DOID:5041" ], "site": [ "A5PKW4-1.459.459", "A5PKW4-1.621.621", "A5PKW4-1.298.298", "A5PKW4-1.473.473", "A5PKW4-1.731.731", "A5PKW4-1.425.425", "A5PKW4-1.765.766", "A5PKW4-1.175.175", "A5PKW4-1.993.993", "A5PKW4-1.749.749", "A5PKW4-1.673.673", "A5PKW4-1.676.676", "A5PKW4-1.940.940", "A5PKW4-1.720.720", "A5PKW4-1.571.571", "A5PKW4-1.602.602", "A5PKW4-1.796.796", "A5PKW4-1.326.326", "A5PKW4-1.402.402", "A5PKW4-1.156.156", "A5PKW4-1.126.126", "A5PKW4-1.1001.1001", "A5PKW4-1.778.778", "A5PKW4-1.992.992" ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10075920", "type": [ "PubMed" ], "id": "10075920" } ], "title": "EFA6, a sec7 domain-containing exchange factor for ARF6, coordinates membrane recycling and actin cytoskeleton organization.", "journal": "The EMBO journal", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Franco M, Peters PJ, Boretto J, van Donselaar E, Neri A, D'Souza-Schorey C, Chavrier P", "date": "1999" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15540117", "type": [ "PubMed" ], "id": "15540117" } ], "title": "ARF6-dependent interaction of the TWIK1 K+ channel with EFA6, a GDP/GTP exchange factor for ARF6.", "journal": "EMBO reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Decressac S, Franco M, Bendahhou S, Warth R, Knauer S, Barhanin J, Lazdunski M, Lesage F", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23603394", "type": [ "PubMed" ], "id": "23603394" } ], "title": "EFA6 activates Arf6 and participates in its targeting to the Flemming body during cytokinesis.", "journal": "FEBS Lett.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "authors": "Takahashi S., Nakayama K., Hanai A., Kubo K., Ohgi M., Sakagami H., Shin H.W., Takei T., Ueda T.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25355626", "type": [ "PubMed" ], "id": "25355626" } ], "title": "The Pleckstrin and Sec7 domain-containing gene as a novel epigenetic modification marker in human gastric cancer and its clinical significance.", "journal": "International journal of oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Zhu X, Liu J, Xu X, Zhang C, Dai D", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26330566", "type": [ "PubMed" ], "id": "26330566" } ], "title": "Class I Arfs (Arf1 and Arf3) and Arf6 are localized to the Flemming body and play important roles in cytokinesis.", "journal": "Journal of biochemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Hanai A, Ohgi M, Yagi C, Ueda T, Shin HW, Nakayama K", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29246944", "type": [ "PubMed" ], "id": "29246944" } ], "title": "EFA6 proteins regulate lumen formation through alpha-actinin 1.", "journal": "Journal of cell science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Milanini J, Fayad R, Partisani M, Lecine P, Borg JP, Franco M, Luton F", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/9417912", "type": [ "PubMed" ], "id": "9417912" } ], "title": "Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "authors": "Fracchiolla N.S., Neri A., Maiolo A.T., Trecca D., Ronchetti D., Perletti L., Talarico D.", "date": "1997" } ], "uniprot_ac": "A5PKW4", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4#A0A1B0GUT6-1", "isoform_ac": "A0A1B0GUT6-1", "sequence": { "header": "tr|A0A1B0GUT6-1|PSD1_HUMAN Computationally mapped isoform of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=1 CANONICAL=A5PKW4-1", "length": 143, "sequence": "MIGVNSIHSSAGRLRSRSLCSVRYGRTHRGAETLCYGWPQRSRSLKPVLYTDLVVSRLQSRKKKKAALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCR" }, "locus": { "chromosome": "10", "end_pos": 102405350, "start_pos": 102409092, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000461698", "id": "ENST00000461698", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000490238", "id": "ENSP00000490238", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#A5PKW4-1", "isoform_ac": "A5PKW4-1", "sequence": { "header": "sp|A5PKW4-1|PSD1_HUMAN Isoform 1 of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=2 CANONICAL=A5PKW4-1", "length": 1024, "sequence": "MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGRELGRVTAPCTPLRGPPSPRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAPGGLSRSWDLGGVSPPRPTPALGPGSNRKLRLEASTSDPLPARGGSALPGSRNLVHGPPAPPQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSPREVSSHAQRIARAKWEFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETDIDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGEEDVDDEVFEASEGARPGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP" }, "locus": { "chromosome": "10", "end_pos": 102403203, "start_pos": 102417038, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000020673", "id": "ENST00000020673", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000020673", "id": "ENSP00000020673", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#A5PKW4-2", "isoform_ac": "A5PKW4-2", "sequence": { "header": "sp|A5PKW4-2|PSD1_HUMAN Isoform 2 of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=2 CANONICAL=A5PKW4-1", "length": 645, "sequence": "MPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP" }, "locus": { "chromosome": "10", "end_pos": 102403203, "start_pos": 102414184, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000611678", "id": "ENST00000611678", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000481250", "id": "ENSP00000481250", "database": "Ensembl Peptide" } ] } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5662", "resource": "KEGG Pathway", "id": "hsa:5662", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "annotation": "Arf GTPases are likely to be locally activated by EFA6 and in turn targeted to the Flemming body to complete cytokinesis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "annotation": "EFA6A recruits alpha-actinin 1 (ACTN1) through direct binding. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#function", "annotation": "Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4#function", "id": "A5PKW4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "annotation": "PSD expression might be a useful biomarker for epigenetic-based gastric cancer early diagnosis and may lead to the identification of new targets for pharmacological intervention.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5DTT2-1", "protein_name": "PH and SEC7 domain-containing protein 1", "sequence": { "length": 1024, "sequence": "MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLIRRVVGPGPRGRDLGRVTAPCTPLRAPPSPHIAPSPWGPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPASGGLSRSWDLGGISAPRPTPALGPGCNRKLRLEASTSDPLPAGGGSVLPGSRDPSRGPLVPPQIGADGLYSSLPNGLGGTPEHLAMHFRGPADTGFLNQGDTWSSPREVSSHAQRIARAKWEFFYGSLDAPSSGAKPPEQVLPSRGVGSKQGSGVAVGRAAKYSETDLDKVPLRCYRETDIDEVLAEREEADSAIESQPSSEGPHGTAQPPASRPSPCPGPSSSLGSGNEDDEAGGEEDVDDEVFEASEGARPGDHMPHSGLLKSPVPFLLGTSPSADGPDSFSCVFEAILESHRAKGTSYSSLASLEALASPGPTQSPFFTFEMPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRREVEESDAGATLAPRKELPSPSHSEDSFGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRVSGGSGSSSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYQPGKALSEAELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAHLGKKARGKEADEQRQKEAYLEFEKSRYGTYAALLRVKMKAASEELDTIEAALAQAGSTEDGCPPPHSSPSLRPKPTSQPRAQRPGSETRAGAGSTRPKP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/31115", "id": "31115", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q9ESQ7-1", "protein_name": "PH and SEC7 domain-containing protein 1", "sequence": { "length": 649, "sequence": "MPHSGLLKSPVPFLPGTSPSADGPDSFSCMFEAIMESHRAKGTSYSSLASLEALASPGPTQSPFFTFEMPPQPPAPRPDPPAPAPLAPLEPDSGTSSVADGPWTQRREVEESDAGATLAPRKELPSPSHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRVSGGSGSSSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYQPGKALSEAELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAHLGKKARGKEAEEQRQKETYLEFEKSRYGTYAALLRVKMKAASEELDAIEAALAQAGSTEEGCPPPHSSPSLQPNPTSQPRAQRPGSEARAGAGSTRPKP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/31115", "id": "31115", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "subjects_tested": "1514", "alt_nt": "G", "chr_id": "10", "ref_nt": "C", "chr_pos": "104173662", "disease": [ { "synonyms": [], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "description": "A respiratory system cancer that is located_in the lung.", "resource": "Disease Ontology", "id": "DOID:1324", "name": "lung cancer" } } ], "glycoeffect": [], "end_pos": 473, "frequency": "2.4", "sequence_mut": "P", "start_pos": 473, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "36", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514)." }, { "sequence_org": "H", "subjects_tested": "93", "alt_nt": "A", "chr_id": "10", "ref_nt": "G", "chr_pos": "104176273", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "malignant Ovarian tumor" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "malignant tumour of ovary" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "ovarian neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "ovary neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "primary ovarian cancer" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "tumor of the Ovary" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "description": "A female reproductive organ cancer that is located_in the ovary.", "resource": "Disease Ontology", "id": "DOID:2394", "name": "ovarian cancer" } } ], "glycoeffect": [], "end_pos": 175, "frequency": "1.1", "sequence_mut": "Y", "start_pos": 175, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs1238188868." }, { "sequence_org": "E", "subjects_tested": "558", "alt_nt": "T", "chr_id": "10", "ref_nt": "C", "chr_pos": "104174852", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "CA - cancer of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "Tumour of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "malignant neoplasm of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "malignant uterine tumor" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "neoplasm of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "uterine tumor" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "uterus neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "description": "A female reproductive organ cancer that is located_in the uterus.", "resource": "Disease Ontology", "id": "DOID:363", "name": "uterine cancer" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "description": "", "resource": "Disease Ontology", "id": "DOID:1612", "name": "breast tumor" }, { "url": "http://disease-ontology.org/term/DOID:1612", "description": "", "resource": "Disease Ontology", "id": "DOID:1612", "name": "malignant neoplasm of breast" }, { "url": "http://disease-ontology.org/term/DOID:1612", "description": "", "resource": "Disease Ontology", "id": "DOID:1612", "name": "malignant tumor of the breast" }, { "url": "http://disease-ontology.org/term/DOID:1612", "description": "", "resource": "Disease Ontology", "id": "DOID:1612", "name": "mammary cancer" }, { "url": "http://disease-ontology.org/term/DOID:1612", "description": "", "resource": "Disease Ontology", "id": "DOID:1612", "name": "mammary tumor" }, { "url": "http://disease-ontology.org/term/DOID:1612", "description": "", "resource": "Disease Ontology", "id": "DOID:1612", "name": "primary breast cancer" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "description": "A thoracic cancer that originates in the mammary gland.", "resource": "Disease Ontology", "id": "DOID:1612", "name": "breast cancer" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "description": "", "resource": "Disease Ontology", "id": "DOID:11054", "name": "bladder cancer" }, { "url": "http://disease-ontology.org/term/DOID:11054", "description": "", "resource": "Disease Ontology", "id": "DOID:11054", "name": "tumor of the bladder" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "resource": "Disease Ontology", "id": "DOID:11054", "name": "urinary bladder cancer" } } ], "glycoeffect": [], "end_pos": 298, "frequency": "0.2", "sequence_mut": "K", "start_pos": 298, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs773796171." }, { "sequence_org": "G", "subjects_tested": "50", "alt_nt": "A", "chr_id": "10", "ref_nt": "C", "chr_pos": "104174767", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "Thyroid gland neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant tumour of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid gland cancer" } } ], "glycoeffect": [], "end_pos": 326, "frequency": "2.0", "sequence_mut": "V", "start_pos": 326, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "F", "subjects_tested": "50", "alt_nt": "C", "chr_id": "10", "ref_nt": "A", "chr_pos": "104173875", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "Thyroid gland neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant tumour of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid gland cancer" } } ], "glycoeffect": [], "end_pos": 402, "frequency": "2.0", "sequence_mut": "V", "start_pos": 402, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "S", "subjects_tested": "1044", "alt_nt": "A", "chr_id": "10", "ref_nt": "G", "chr_pos": "104173805", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "Ca body - stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "Ca lesser curvature - stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "ca greater curvature of stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "gastric cancer" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "gastric neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "malignant neoplasm of body of stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "malignant neoplasm of lesser curve of stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "malignant tumor of body of stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "malignant tumor of greater curve of stomach" }, { "url": "http://disease-ontology.org/term/DOID:10534", "description": "", "resource": "Disease Ontology", "id": "DOID:10534", "name": "malignant tumor of lesser curve of stomach" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "description": "A gastrointestinal system cancer that is located_in the stomach.", "resource": "Disease Ontology", "id": "DOID:10534", "name": "stomach cancer" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "description": "", "resource": "Disease Ontology", "id": "DOID:4159", "name": "CA - skin cancer" }, { "url": "http://disease-ontology.org/term/DOID:4159", "description": "", "resource": "Disease Ontology", "id": "DOID:4159", "name": "malignant neoplasm of skin" }, { "url": "http://disease-ontology.org/term/DOID:4159", "description": "", "resource": "Disease Ontology", "id": "DOID:4159", "name": "melanoma and Non-melanoma skin cancer" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "resource": "Disease Ontology", "id": "DOID:4159", "name": "skin cancer" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "CA - cancer of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "Tumour of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "malignant neoplasm of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "malignant uterine tumor" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "neoplasm of uterus" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "uterine tumor" }, { "url": "http://disease-ontology.org/term/DOID:363", "description": "", "resource": "Disease Ontology", "id": "DOID:363", "name": "uterus neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "description": "A female reproductive organ cancer that is located_in the uterus.", "resource": "Disease Ontology", "id": "DOID:363", "name": "uterine cancer" } } ], "glycoeffect": [ "o-glyco-site-loss" ], "end_pos": 425, "frequency": "0.1", "sequence_mut": "L", "start_pos": 425, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs751241410." }, { "sequence_org": "A", "subjects_tested": "399", "alt_nt": "T", "chr_id": "10", "ref_nt": "C", "chr_pos": "104173704", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "Ca body of pancreas" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "Ca head of pancreas" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "Ca tail of pancreas" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "malignant neoplasm of body of pancreas" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "malignant neoplasm of head of pancreas" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "malignant neoplasm of tail of pancreas" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "pancreas neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "pancreatic neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1793", "description": "", "resource": "Disease Ontology", "id": "DOID:1793", "name": "pancreatic tumor" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1793", "description": "An endocrine gland cancer located_in the pancreas.", "resource": "Disease Ontology", "id": "DOID:1793", "name": "pancreatic cancer" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:263", "description": "", "resource": "Disease Ontology", "id": "DOID:263", "name": "malignant neoplasm of kidney except pelvis" }, { "url": "http://disease-ontology.org/term/DOID:263", "description": "", "resource": "Disease Ontology", "id": "DOID:263", "name": "malignant tumour of kidney" }, { "url": "http://disease-ontology.org/term/DOID:263", "description": "", "resource": "Disease Ontology", "id": "DOID:263", "name": "renal cancer" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:263", "description": "A urinary system cancer that is located_in the kidney.", "resource": "Disease Ontology", "id": "DOID:263", "name": "kidney cancer" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "description": "", "resource": "Disease Ontology", "id": "DOID:10283", "name": "NGP - 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"ENSG00000059915", "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=ENSG00000059915", "id": "ENSG00000059915", "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=ENSG00000059915", "id": "ENSG00000059915", "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=ENSG00000059915", "id": "ENSG00000059915", "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=ENSG00000059915", "id": "ENSG00000059915", "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=ENSG00000059915", "id": "ENSG00000059915", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "name": "PSD", "locus": { "chromosome": "10", "end_pos": 102402617, "start_pos": 102421539, "strand": "-", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000059915", "id": "ENSG00000059915", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "resource": "UniProtKB", "type": "synonym", "name": "Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6" }, { "url": "https://www.uniprot.org/uniprot/A5PKW4", "resource": "UniProtKB", "type": "synonym", "name": "Exchange factor for ARF6 A" }, { "url": "https://www.uniprot.org/uniprot/A5PKW4", "resource": "UniProtKB", "type": "synonym", "name": "Exchange factor for ARF6" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5PKW4", "resource": "RefSeq", "type": "synonym", "name": "PH and SEC7 domain-containing protein 1 isoform 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5PKW4", "resource": "RefSeq", "type": "synonym", "name": "PH and SEC7 domain-containing protein 1; exchange factor for ARF6; exchange factor for ARF6 A; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; pleckstrin homology and SEC7 domain-containing protein 1; pleckstrin-Sec7 domains-containing" }, { "url": "https://www.uniprot.org/uniprot/A5PKW4", "resource": "UniProtKB", "type": "recommended", "name": "PH and SEC7 domain-containing protein 1" }, { "url": "https://www.uniprot.org/uniprot/A5PKW4", "resource": "UniProtKB", "type": "synonym", "name": "Pleckstrin homology and SEC7 domain-containing protein 1" } ] }