{ "uniprot_canonical_ac": "A2PYH4-1", "ptm_annotation": [], "sequence": { "header": "sp|A2PYH4-1|HFM1_HUMAN Isoform 1 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1", "length": 1435, "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF" }, "uniprot_id": "HFM1_HUMAN", "enzyme_annotation": [ { "ec": "3.6.4.12", "activity": "" }, { "ec": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17286053", "type": [ "PubMed" ], "id": "17286053" } ], "title": "HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells.", "journal": "DNA Seq.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Tanaka K., Miyamoto N., Ikeda J.E., Shouguchi-Miyata J.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20800603", "type": [ "PubMed" ], "id": "20800603" } ], "title": "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.", "journal": "Mutation research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber S, Nebel A", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23555294", "type": [ "PubMed" ], "id": "23555294" } ], "title": "Mouse HFM1/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosis.", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Guiraldelli MF, Eyster C, Wilkerson JL, Dresser ME, Pezza RJ", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24597873", "type": [ "PubMed" ], "id": "24597873" } ], "title": "Mutations in HFM1 in recessive primary ovarian insufficiency.", "journal": "N. Engl. J. Med.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Jiang H., Lin C., Shao H., Shen Y., Wang J., Wang J.', Wu J., Yu L., Zhang M., Zhang W., An Y., Zhou W., Wu B., Shen X., Song X., Wu B.L., Zhang W.', Grimmett L., Jiang H.', Jiang H.'', Liao E., Platt O., Pu D., Shen Y.', Wu B.L.', Wu B.L.'', Wu B.L.''', Zhang W.'', Zhang W.'''", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26679638", "type": [ "PubMed" ], "id": "26679638" } ], "title": "Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.", "journal": "Clinical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Pu D, Wang C, Cao J, Shen Y, Jiang H, Liu J, Wu BL, Zhang W, Wu J", "date": "2016" } ], "uniprot_ac": "A2PYH4", "site_annotation": [ { "end_pos": 1202, "annotation": "n_glycosylation_sequon", "start_pos": 1200 }, { "end_pos": 1230, "annotation": "n_glycosylation_sequon", "start_pos": 1228 }, { "end_pos": 1374, "annotation": "n_glycosylation_sequon", "start_pos": 1372 }, { "end_pos": 1392, "annotation": "n_glycosylation_sequon", "start_pos": 1390 }, { "end_pos": 207, "annotation": "n_glycosylation_sequon", "start_pos": 205 }, { "end_pos": 446, "annotation": "n_glycosylation_sequon", "start_pos": 444 }, { "end_pos": 505, "annotation": "n_glycosylation_sequon", "start_pos": 503 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4#A2PYH4-1", "isoform_ac": "A2PYH4-1", "locus": { "end_pos": 91261293, "strand": "+", "start_pos": 91401082, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000370425", "id": "ENST00000370425", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000359454", "id": "ENSP00000359454", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2PYH4-1|HFM1_HUMAN Isoform 1 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1", "length": 1435, "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#A2PYH4-2", "isoform_ac": "A2PYH4-2", "locus": {}, "sequence": { "header": "sp|A2PYH4-2|HFM1_HUMAN Isoform 2 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1", "length": 551, "sequence": "MDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISVLFHHMRCRIFLYQILLCPSSVHPP" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JA44-1", "isoform_ac": "C9JA44-1", "locus": { "end_pos": 91380234, "strand": "+", "start_pos": 91401082, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000448819", "id": "ENST00000448819", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000397369", "id": "ENSP00000397369", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JA44-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 151, "sequence": "MLKSNDCLFSLENLFFEKPDEVEKLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDL" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JQ07-1", "isoform_ac": "C9JQ07-1", "locus": { "end_pos": 91385615, "strand": "+", "start_pos": 91401069, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427444", "id": "ENST00000427444", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000388900", "id": "ENSP00000388900", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JQ07-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 196, "sequence": "MIACFLWKICFLKNQMKLKSQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKA" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JQP7-1", "isoform_ac": "C9JQP7-1", "locus": { "end_pos": 91394173, "strand": "+", "start_pos": 91401082, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000455133", "id": "ENST00000455133", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000409827", "id": "ENSP00000409827", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JQP7-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 138, "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAP" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#H0Y3X7-1", "isoform_ac": "H0Y3X7-1", "locus": { "end_pos": 91262239, "strand": "+", "start_pos": 91347449, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430465", "id": "ENST00000430465", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000387661", "id": "ENSP00000387661", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y3X7-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 625, "sequence": "XIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRCITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164045", "resource": "KEGG Pathway", "id": "hsa:164045", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "Data suggest that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "Exome sequencing of two Chinese sisters with primary ovarian insufficiency and their parents identified a shared compound heterozygous mutation in a meiotic gene, HFM1, which encodes a protein necessary for homologous recombination of chromosomes.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "HHFM1 is the evolutionally conserved putative human DNA helicase, which may function as a modulator for genome integrity in germ-line tissues.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#function", "annotation": "Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4#function", "id": "A2PYH4", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z4R1-1", "protein_name": "Probable ATP-dependent DNA helicase HFM1", "sequence": { "length": 1434, "sequence": "MPKSDDCFFSMDNLFFSSPDETENFPVKEKSLDWFLPPAPLISEIPDIQELEEEIESYKLLGKGKMPRMLTSNLKIINEDTNCISPTQKIHFSYNVHEQDYLNLGGSNNNDMSHVAGKLMYGSSQKYKNHMGAKSPSARSSPGDTKLHDVAEDRQGTSAFKKRLSRTCDSEHDCDYADGSLNLSSHISPVKLTQTKISKENAWTCSNSKQKRQYSTNKFKANDAFSASGIGKDIFKAPSFPAASQPHDIQGITPNGLGSLKAVTEIPAKFRNIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNMKIVYMAPIKALCSQRFDDWKEKFGPVGLNCKELTGDTVMDDLFEIQHANIIITTPEKWDSVTRKWRDNSFIQLVRLFLIDEVHVIKDENRGPTLEVVVSRMKTVQSLSRDLESASPVPVRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSSQTEFKFDLALNYKVYSVIRTYSDQKPTLVFCSTRKGVQQAASVLVKDAKFIISVEQKLRLQKSAYSIRDSKLKDTLVYGVGYHHAGMELSDRKLVEGLFTSGDLPVLFTTSTLAMGMNMPAHLVVIKSTMHYSGGVFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTREKYVQMLACNDTVESSLHRHLIEHLNAEIVLHTITDVNIALDWIRSTMLYIRALKNPSHYGFSSGLNKDGIEAKLQELCLKNLKDLSSLDLIKMDEDVNFKPTEAGRLMAWYYITFETVKKFCAISGKETLLDLISMISSCNEFLDVQLRISEKRILNTLNKDPNRITIRFPMAERIKTREMKVNCLIQAQLGCIPIQDFALTQDTVKIFRNGSRIARWLSDFVAAQEKKFAVLLNSVILTKCFKCKLWENSKHVSKQLDKIGISLSNTMVNAGLTSFKKIEEANARELELILNRHPPFGTQIKEAVAHLPKYELEVEQIARYSDIKAEILVTIILRNFEQLQTKRTAPDFHYATLIIGDADNQVVFKHKIMDSVLLKSGNWVKKIDVKRALISEDLSINLISSDYVGLDIHQKFTVFYFGPRKFVNETAMERSSETDISHSDYSGRATATGSSKGMATCKKPGNRECHHHCKNKHACGHDCCKIGVAQKPEVKESAMSSYLSDLKSRDAVSSLPLAKRLKIQMNKSQNVDLKEFGFTPRPSLSSISRSEYLNTPELSILEQRNQHEIYGKVQQGPSEYRDKEVLGVNLELGNEVWDDFDDESLIEVMSLSADAEKMAASGFGDTRDSSLGGSKLPFQKSSSRFQRDNSNSFASSPGKPDAYLRDCSRSSFGLSSVAEIPQRAENASLANLQERRPLTLSPVIERMCFAHSKKTPQSPKFKEVDIFIGNSGSKKEIDLSKYYPDDAAEEMKALLGIFNGIF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2PYH4/", "id": "A2PYH4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/87103", "id": "87103", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1LWY1-1", "protein_name": "Helicase for meiosis 1", "sequence": { "length": 1434, "sequence": "MLESNDCILSMDSLFFSSPGETESFPVEEKSLDWFLPPAPLISEIPDIQELEEEIENYKLLGERKMPNILTSNLKIINEDTNCISPTQKFHFPYNIHEQDYLNLGGLNNNDMSHTAGKLVYGSSQKYKNHMGDESPPTKSGPGDAKLHTAAEDREGTSALKTRLSRTCGSVQECDYANGNLSLNSHISPARLTQTKVSKEKPWNCSNRKQKLQYSTDKSKANDAFSASGIEKDIFEAPSFSAASQPRDIQGITSNGLGSLKAVTEIPAKFRSVFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEAPLPWLNMKVVYMAPIKALCSQRFDDWKEKFGPIGLTCKELTGDTVMDDLFEIQHANIIMTTPEKWDSMTRKWRDNSFIQLVRLFLIDEVHVIKDENRGPTLEVVVSRMKTVQSLSKTLENASPAPVRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPSSSNQTEFKFDLALNYKVYSVIRTYSDQKPTLVFCATRKGVQQAASVLVKDAKFIITVEQKLRLQKSAYSIRDSKLKDTLVYGVGYHHAGMELSDRKLVEELFTSGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYTGGAFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTREKYVQMLACNDTVESSLHRHLIEHLNAEIVLHTITDVSIALDWIRSTLLYIRALKNPSHYGFISGLNKDGIEAKLQELCLKNLKDLSSLDLIKMDEDLNFRSTEAGRLMAWYYITFETVKKFCAISGKETLSDLISMISSCSEFLDVQLRISEKRTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTSKIFRNGSRIAKWLSDFVTAQEQKFAVLLNSVILAKCFKCKLWENSQHVSKQLDKIGISLSNTMVNAGLTSFKKIEEANARELELILNRHPPFGTQIKEAVMYLPKYELEAEQIARYSDTKAEILVTIILRNFEQLQTKRTAPDFHYATLIIGDADNQVVCKHKIMDSVLLKSGNWVKKIDVKRALISEDLSINLISSDYVGLDIHQKFTVFYLGPRKFVNQTVTERSSGTGLSHSECSDRATAAGSSKRTATCRNPGNRECHHHCKNKHICGHDCCKIGVAQKPEAKVSAVSSYLSDLKSRDAVSSFPPAKRLKIQMNKSQNVDLKEFGFVPRPSLSSIARSEYLNIHKLPILEQRTQHEIYGEVEEGASECRDEDGPHVNSELGDEVWDDFDDESLIEVMSFSADAEEMAVSGFGDTRDSSLGRSKLHFGRSSSRFQRDISNSFVSSPEKPDVCLSDCSVSNFGLSSVAEFPQQAGNASLVNLQERKQLTLSPVIERMCFTHSEKIPQSPSFKEVDIFIGNSDSKKEIDLSKYYPDDAAEEMKALLGIFNGIF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2PYH4/", "id": "A2PYH4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/87103", "id": "87103", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "T", "start_pos": 1002, "alt_nt": "A", "chr_id": "1", "ref_nt": "G", "chr_pos": "91781507", "disease": [ { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "description": "" } ], "recommended_name": { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } }, { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } }, { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID: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/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "M", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5). In dbSNP: rs148381777.", "end_pos": 1002, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 1036, "alt_nt": "T", "chr_id": "1", "ref_nt": "C", "chr_pos": "91781406", "disease": [ { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID: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/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "T", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 1036, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "start_pos": 1047, "alt_nt": "A", "chr_id": "1", "ref_nt": "G", "chr_pos": "91781372", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } }, { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - 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"description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } }, { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID: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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "*", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 980, "minor_allelic_frequency": "", "subjects_positive": "3" }, { "sequence_org": "Y", "start_pos": 988, "alt_nt": "C", "chr_id": "1", "ref_nt": "T", "chr_pos": "91781677", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID: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/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "C", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 988, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "ac": "NP_001017975.4", "name": "probable ATP-dependent DNA helicase HFM1", "summary": "The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "nucleic acid binding", "id": "GO:0003676" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "DNA helicase activity", "id": "GO:0003678" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "resolution of meiotic recombination intermediates", "id": "GO:0000712" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2PYH4", "type": "synonym", "resource": "RefSeq", "name": "HFM1" }, { "url": "https://www.uniprot.org/uniprot/A2PYH4", "type": "recommended", "resource": "UniProtKB", "name": "HFM1" }, { "url": "https://www.uniprot.org/uniprot/A2PYH4", "type": "synonym", "resource": "UniProtKB", "name": "SEC3D1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2PYH4", "type": "synonym", "resource": "RefSeq", "name": "helicase; MER3; POF9; SEC63D1; Si-11; Si-11-6" } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669", "id": "ENSG00000162669", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1", "id": "HFM1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/164045", "id": "164045", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20193", "id": "20193", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001650", "id": "IPR001650", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004179", "id": "IPR004179", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011545", "id": "IPR011545", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014001", "id": "IPR014001", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "id": "IPR036390", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164045", "id": "hsa:164045", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/615684", "id": "615684", "database": "MIM" }, { "url": "http://www.omim.org/entry/615724", "id": "615724", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2PYH4", "id": "NX_A2PYH4", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/ASVIQMY/", "id": "ASVIQMY", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=154891at2759", "id": "154891at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00270", "id": "PF00270", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00271", "id": "PF00271", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02889", "id": "PF02889", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2PYH4", "id": "A2PYH4", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2PYH4", "id": "PR_A2PYH4", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID: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/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID: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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID: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/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID: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": "DOID: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 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