{ "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": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "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/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/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/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" }, { "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" } ], "uniprot_ac": "A5PKW4", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4#A0A1B0GUT6-1", "isoform_ac": "A0A1B0GUT6-1", "locus": { "end_pos": 102405350, "start_pos": 102409092, "chromosome": "10", "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" } ] }, "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" } }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#A5PKW4-1", "isoform_ac": "A5PKW4-1", "locus": { "end_pos": 102403203, "start_pos": 102417038, "chromosome": "10", "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" } ] }, "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" } }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#A5PKW4-2", "isoform_ac": "A5PKW4-2", "locus": { "end_pos": 102403203, "start_pos": 102414184, "chromosome": "10", "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" } ] }, "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" } } ], "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.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": "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.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" } ] }, { "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" } ] } ], "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": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "start_pos": 473, "alt_nt": "G", "chr_id": "10", "ref_nt": "C", "chr_pos": "104173662", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.4", "sequence_mut": "P", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514).", "end_pos": 473, "minor_allelic_frequency": "", "subjects_positive": "36" }, { "sequence_org": "Q", "start_pos": 940, "alt_nt": "A", "chr_id": "10", "ref_nt": "G", "chr_pos": "104163625", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "*", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 940, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "H", "start_pos": 175, "alt_nt": "A", "chr_id": "10", "ref_nt": "G", "chr_pos": "104176273", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "Y", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs1238188868.", "end_pos": 175, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 602, "alt_nt": "T", "chr_id": "10", "ref_nt": "C", "chr_pos": "104171928", "disease": [ { "synonyms": [ { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } }, { "synonyms": [ { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant tumour of kidney", "description": "" }, { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "renal cancer", "description": "" } ], "recommended_name": { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." } }, { "synonyms": [ { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - 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new growth of prostate", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "T", "subjects_tested": "399", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 459, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "F", "start_pos": 571, "alt_nt": "T", "chr_id": "10", "ref_nt": "G", "chr_pos": "104172173", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "L", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 571, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "M", "start_pos": 673, "alt_nt": "T", "chr_id": "10", "ref_nt": "A", "chr_pos": "104170688", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 673, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 326, "alt_nt": "A", "chr_id": "10", "ref_nt": "C", "chr_pos": "104174767", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 326, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "ac": "NP_001257894.1", "name": "PH and SEC7 domain-containing protein 1 isoform 1", "summary": "This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005086", "pmid": "23603394", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "ARF guanyl-nucleotide exchange factor activity", "id": "GO:0005086" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "phospholipid binding", "id": "GO:0005543" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "pmid": "23603394", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "cleavage furrow", "id": "GO:0032154" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "pmid": "23603394", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "ruffle membrane", "id": "GO:0032587" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098999", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "extrinsic component of postsynaptic endosome membrane", "id": "GO:0098999" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "dendritic spine", "id": "GO:0043197" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "postsynaptic density, intracellular component", "id": "GO:0099092" } ], "total": 5, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "pmid": "9417912", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "signal transduction", "id": "GO:0007165" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "neuron projection development", "id": "GO:0031175" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032012", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "regulation of ARF protein signal transduction", "id": "GO:0032012" } ], "total": 3, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "type": "synonym", "resource": "UniProtKB", "name": "TYL" }, { "url": "https://www.uniprot.org/uniprot/A5PKW4", "type": "recommended", "resource": 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"MIM" }, { "url": "https://omabrowser.org/oma/group/DAPWTER/", "id": "DAPWTER", "database": "OMA" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5662", "id": "hsa:5662", "database": "KEGG Pathway" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00171", "id": "cd00171", "database": "CDD" }, { "url": "http://pfam.xfam.org/family/PF01369", "id": "PF01369", "database": "Pfam" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9507", "id": "9507", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR023394", "id": "IPR023394", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001605", "id": "IPR001605", "database": "InterPro" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5PKW4", "id": "PR_A5PKW4", "database": "PRO" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000059915", "id": "ENSG00000059915", "database": "Bgee" }, { "url": "http://pfam.xfam.org/family/PF15410", "id": "PF15410", "database": "Pfam" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "id": "IPR011993", "database": "InterPro" }, { "url": "http://www.orthodb.org/?query=301851at2759", "id": "301851at2759", "database": "OrthoDB" } ], "expression_disease": [ { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": 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