{ "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": [ "enzyme" ], "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" } ], "authors": "Tanaka K., Miyamoto N., Ikeda J.E., Shouguchi-Miyata J.", "date": "2006" }, { "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" } ], "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" } ], "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.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", "gene_name": "Hfm1", "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", "gene_name": "Hfm1", "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": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } }, { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "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": [ { "disease_id": "DOID:2394", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant Ovarian tumor", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovarian neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovary neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "primary ovarian cancer", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of ovary", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "tumor of the Ovary", "id": "DOID:2394" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, epithelial", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, NOS", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "primary ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian malignant tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumour of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://www.omim.org/entry/167000", "resource": "MIM", "description": "Ovarian cancer", "name": "Ovarian cancer", "id": "MIM:167000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the ovary.", "name": "ovarian cancer", "id": "DOID:2394" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "glycoeffect": [], "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": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of 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"url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": 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"https://monarchinitiative.org/disease/MONDO:0014322", "resource": "MONDO", "description": "", "name": "premature ovarian failure 9; Pof9", "id": "MONDO:0014322" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.", "name": "premature ovarian failure 8", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "", "name": "POF8", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "", "name": "premature ovarian failure type 8", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "", "name": "STAG3 primary ovarian failure", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "", "name": "primary ovarian failure caused by mutation in STAG3", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "", "name": "premature ovarian failure 8", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014321", "resource": "MONDO", "description": "", "name": "premature ovarian failure 8; POF8", "id": "MONDO:0014321" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010350", "resource": "MONDO", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.", "name": "premature ovarian failure 2A", "id": "MONDO:0010350" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010350", "resource": "MONDO", "description": "", "name": "premature ovarian failure 2A", "id": "MONDO:0010350" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010350", "resource": "MONDO", "description": "", "name": 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"resource": "MONDO", "description": "", "name": "FMR1-related primary ovarian insufficiency", "id": "MONDO:0010706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010706", "resource": "MONDO", "description": "", "name": "primary ovarian failure caused by mutation in FMR1", "id": "MONDO:0010706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010706", "resource": "MONDO", "description": "", "name": "premature ovarian failure 1; Pof1", "id": "MONDO:0010706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.", "name": "premature ovarian failure 7", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "Pof7", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "NR5A1 primary ovarian failure", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "primary ovarian failure caused by mutation in NR5A1", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "premature ovarian failure 7; Pof7", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "premature ovarian failure 7", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "premature ovarian failure type 7", "id": "MONDO:0013065" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013065", "resource": "MONDO", "description": "", "name": "adrenal insufficiency, Nr5A1-related", "id": "MONDO:0013065" }, { "url": 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"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=ENSG00000162669", "id": "ENSG00000162669", "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=ENSG00000162669", "id": "ENSG00000162669", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "name": "HFM1", "locus": { "end_pos": 91260766, "strand": "-", "start_pos": 91404869, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000162669", "id": "ENSG00000162669", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "3.6.4.12" }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Probable ATP-dependent DNA helicase HFM1" }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "SEC63 domain-containing protein 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2PYH4", "type": "synonym", "resource": "RefSeq", "name": "helicase-like protein HFM1; SEC63 domain-containing protein 1; HFM1, ATP dependent DNA helicase homolog" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2PYH4", "type": "synonym", "resource": "RefSeq", "name": "probable ATP-dependent DNA helicase HFM1" } ] }