{ "uniprot_canonical_ac": "A2AJK6-1", "sequence": { "header": "sp|A2AJK6-1|CHD7_MOUSE Isoform 1 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 2986, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQEEKKKKKRPKVKKDPKESKEPKEKKEPKTPKAPKIPKEPKEKKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPAPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVIHYLVKWCSLPYEDSTWELKQDIDQTKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSTQPVVHDAHWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPTDWWDREADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPAEDKEESMEVHSSGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLGKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPPLNTLAMGFGQTPPVISSAHVHEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPLQKRSFAELSMVSQASISASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKSQMELLQAGLSRTPTRHMLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSAEDAEVTKAFEEDIETPPIRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVDWLKLHPTYTVDMPSYVPKNTDVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" }, "uniprot_id": "CHD7_MOUSE", "enzyme_annotation": [ { "ec": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "ec": "3.6.4.12", "activity": "" } ], "synonyms": { "protein": { "refseq": [ "chromodomain-helicase-DNA-binding protein 7 isoform 1", "ATP-dependent helicase CHD7" ], "uniprotkb": [ "Chromodomain-helicase-DNA-binding protein 7", "CHD-7", "3.6.4.12", "ATP-dependent helicase CHD7" ] }, "gene": { "refseq": [ "Chd7", "A730019I05Rik", "Cycn", "Cyn", "Dz", "Edy", "Flo", "GENA 47", "Gena 52", "GENA 60", "Lda", "metis", "Mt", "Obt", "Todo", "WBE1", "Whi" ], "uniprotkb": [ "Chd7", "A730019I05Rik", "Cycn", "Cyn", "Dz", "Edy", "Flo", "GENA 47", "Gena 52", "GENA 60", "Lda", "metis", "Mt", "Obt", "Todo", "WBE1", "Whi" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "recommendedname": { "full": "Chromodomain-helicase-DNA-binding protein 7; CHD-7; 3.6.4.12; ATP-dependent helicase CHD7.", "short": "CHD-7" }, "publication": [ { "title": "Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29311329", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AJK6/publications", "id": "A2AJK6", "database": "UniProtKB" } ], "authors": "Belanger C, Berube-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N", "date": "2018", "pmid": "29311329" }, { "title": "Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30108144", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Marie C, Clavairoly A, Frah M, Hmidan H, Yan J, Zhao C, Van Steenwinckel J, Daveau R, Zalc B, Hassan B, Thomas JL, Gressens P, Ravassard P, Moszer I, Martin DM, Lu QR, Parras C", "date": "2018", "pmid": "30108144" }, { "title": "Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29168327", "journal": "American journal of medical genetics. Part C, Seminars in medical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Whittaker DE, Kasah S, Donovan APA, Ellegood J, Riegman KLH, Volk HA, McGonnell I, Lerch JP, Basson MA", "date": "2017", "pmid": "29168327" }, { "title": "Chd7 deficiency delays leukemogenesis in mice induced by Cbfb-MYH11.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29018080", "journal": "Blood", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Zhen T, Kwon EM, Zhao L, Hsu J, Hyde RK, Lu Y, Alemu L, Speck NA, Liu PP", "date": "2017", "pmid": "29018080" }, { "title": "Convergence of BMI1 and CHD7 on ERK Signaling in Medulloblastoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29212025", "journal": "Cell reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Badodi S, Dubuc A, Zhang X, Rosser G, Da Cunha Jaeger M, Kameda-Smith MM, Morrissy AS, Guilhamon P, Suetterlin P, Li XN, Guglielmi L, Merve A, Farooq H, Lupien M, Singh SK, Basson MA, Taylor MD, Marino S", "date": "2017", "pmid": "29212025" }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6/publications", "id": "A2AJK6", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Wang Y., Zhou J., Comb M.J., Guo A., Lee K.A., Aguiar M., Bedford M.T., Gu H., Jia X., Kornhauser J., Mulhern D., Ren J., Silva J.C., Vemulapalli V., Yang V.", "date": "2014", "pmid": "24129315" }, { "title": "Chromodomain proteins in development: lessons from CHARGE syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20507341", "journal": "Clinical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Layman WS, Hurd EA, Martin DM", "date": "2010", "pmid": "20507341" }, { "title": "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16400610", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6/publications", "id": "A2AJK6", "database": "UniProtKB" } ], "authors": "Gibbs R.A., McPherson J.D., Lin A.E., Bacino C.A., Towbin J.A., Thaller C., Belmont J.W., Craigen W.J., Lalani S.R., Davenport S.L.H., Fernbach S.D., Glass N.L., Graham J.M., Harutyunyan K.G., Hefner M., Neish S.R., Peterson L.E., Safiullah A.M., White L.D.", "date": "2006", "pmid": "16400610" }, { "title": "ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11919684", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Kiernan AE, Erven A, Voegeling S, Peters J, Nolan P, Hunter J, Bacon Y, Steel KP, Brown SD, Guenet JL", "date": "2002", "pmid": "11919684" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK6-1", "isoform_ac": "A2AJK6-1", "locus": { "end_pos": 8751505, "start_pos": 8866652, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000039267", "id": "ENSMUST00000039267", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000043903", "id": "ENSMUSP00000043903", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AJK6-1|CHD7_MOUSE Isoform 1 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 2986, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQEEKKKKKRPKVKKDPKESKEPKEKKEPKTPKAPKIPKEPKEKKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPAPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVIHYLVKWCSLPYEDSTWELKQDIDQTKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSTQPVVHDAHWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPTDWWDREADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPAEDKEESMEVHSSGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLGKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPPLNTLAMGFGQTPPVISSAHVHEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPLQKRSFAELSMVSQASISASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKSQMELLQAGLSRTPTRHMLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSAEDAEVTKAFEEDIETPPIRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVDWLKLHPTYTVDMPSYVPKNTDVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A0A1Y7VIV0-1", "isoform_ac": "A0A1Y7VIV0-1", "locus": { "end_pos": 8855231, "start_pos": 8858618, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000222546", "id": "ENSMUST00000222546", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000152166", "id": "ENSMUSP00000152166", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1Y7VIV0-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 194, "sequence": "XEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPL" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK6-2", "isoform_ac": "A2AJK6-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A2AJK6-2|CHD7_MOUSE Isoform 2 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 558, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQVRGADACPVA" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A0A0R4J1U9-1", "isoform_ac": "A0A0R4J1U9-1", "locus": { "end_pos": 8751505, "start_pos": 8785590, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000127476", "id": "ENSMUST00000127476", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000118711", "id": "ENSMUSP00000118711", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0R4J1U9-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 631, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQ" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK6-3", "isoform_ac": "A2AJK6-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A2AJK6-3|CHD7_MOUSE Isoform 3 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 2960, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQEEKKKKKRPKVKKDPKESKEPKEKKEPKTPKAPKIPKEPKEKKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPAPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVIHYLVKWCSLPYEDSTWELKQDIDQTKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSTQPVVHDAHWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPTDWWDREADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPAEDKEESMEVHSSGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLGKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPPLNTLAMGFGQTPPVISSAHVHEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPLQKRSFAELSMVSQASISASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKSQMELLQAGLSRTPTRHMLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSALDPDTRIPVINLEDGTRLVGEDAPKNKDLVDWLKLHPTYTVDMPSYVPKNTDVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK7-1", "isoform_ac": "A2AJK7-1", "locus": { "end_pos": 8751505, "start_pos": 8751561, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000129655", "id": "ENSMUST00000129655", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000123241", "id": "ENSMUSP00000123241", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AJK7-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 19, "sequence": "MADPGMMSLFGEDGSLFSE" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#E9PV74-1", "isoform_ac": "E9PV74-1", "locus": { "end_pos": 8751505, "start_pos": 8866652, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000170391", "id": "ENSMUST00000170391", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000127007", "id": "ENSMUSP00000127007", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PV74-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 941, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:320790", "resource": "KEGG Pathway", "id": "mmu:320790", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6#function", "annotation": "Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6#function", "id": "A2AJK6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "CHD7 and CHD8 bind in Oligodendrocyte precursor cells to a majority of ASD risk-associated genes, suggesting an implication of oligodendrocyte lineage cells in ASD neurological defects.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "Findings extend current knowledge of the role of BMI1 and CHD7 in medulloblastoma pathogenesis, and they raise the possibility that pharmacological targeting of BMI1 or ERK may be particularly indicated in a subgroup of MB with low expression levels of CHD7.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "We have identified mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in Chd7 gt/+ mice. Our findings imply a specific function for CHD7 in controlling the spatiotemporal initiation of cerebellar fissures and show that normal fissure formation requires bi-allelic Chd7 expression, consistent with the haploinsuffi- cient nature of CHARGE syndrome.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "Chd7 deficiency delays leukemia initiation induced by Cbfb-MYH11.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "[review] recent and ongoing analyses of CHD7 function in mouse models and cell-based systems Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZAP7-1", "protein_name": "Chromodomain helicase DNA-binding protein 7.", "sequence": { "length": 2984, "sequence": "MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYNQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGSGGGQMGVYPGMQNDRHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQPQQRMSQFSQGQEGLSQGSPFIATSGPGGHLSHMPQQSPNIAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTVNNSGQYSPYPYRNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLMLQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGIPMDVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNIQQPRPFMGMSSTPRELTGHMRPNGCPGVGLADAQAIQERLIPGQQHPGQQPPFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVRQHSPSEPFLEKPVPDMTQVSGQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDPSKGFGKDDFPGGVDNQELSRNSLDASQEETKKRKRPKVKKDPKELKEPREKKEPKTPKAPKTPKEPKERKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPGPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWELRQDLDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKDAHNADSPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCIKPRRPQDKTQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEHDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSMQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPPEDKEDSMEAQSTGKHSESNAELGQLYWPNTSSLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPSLNTLAMGFGQAPPVIASAHAHEEKVMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDSRQECEAEASSVKGELKGVEGSGDPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEGAVSRGKTFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPINRRQMFDFQGLVPGYPPSTVDSPLQKRSFAELSMVSQASVSASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHVLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSAEDAEVTKAFEEDIETPPIRNIPSPGQLDPDTRIPVINLEDGTRLVGEEAPKNKDLVDWLKLHPMYTVDMPSYVPKNADVLFSPFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKGPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDAVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGASEEKAADKAEGGPCKDGETLEGSDAEENLDKTIESSILEDEVAQGEELDSLEGGDEIENNGNDE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19067", "id": "19067", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9P2D1-1", "protein_name": "Chromodomain-helicase-DNA-binding protein 7; CHD-7; 3.6.4.12; ATP-dependent helicase CHD7.", "sequence": { "length": 2997, "sequence": "MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQYHTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRMSQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGIPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQRRRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19067", "id": "19067", "database": "MGI" } ], "organism": "Homo sapiens", "tax_id": 9606 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "ac": "NP_001264078.1", "name": "chromodomain-helicase-DNA-binding protein 7 isoform 1; ATP-dependent helicase CHD7.", "summary": "This gene encodes a protein containing two chromodomains and an ATP-binding helicase domain that functions as a regulator of transcription. Mutations in this gene result in an array of development defects, including inner ear problems. Mice defective for this gene exhibit many of the clinical features of the CHARGE syndrome caused by mutations in the homologous gene in human. [provided by RefSeq, Sep 2015]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "RNA polymerase II proximal promoter sequence-specific DNA binding", "id": "GO:0000978" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "promoter-specific chromatin binding", "id": "GO:1990841" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "DNA helicase activity", "id": "GO:0003678" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003226", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "right ventricular compact myocardium morphogenesis", "id": "GO:0003226" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021553", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "olfactory nerve development", "id": "GO:0021553" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030540", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "female genitalia development", "id": "GO:0030540" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "atrioventricular canal development", "id": "GO:0036302" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "olfactory behavior", "id": "GO:0042048" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nose development", "id": "GO:0043584" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048752", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "semicircular canal morphogenesis", "id": "GO:0048752" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "innervation", "id": "GO:0060384" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "epithelium development", "id": "GO:0060429" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "in utero embryonic development", "id": "GO:0001701" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "chromatin remodeling", "id": "GO:0006338" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "locomotory behavior", "id": "GO:0007626" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "inner ear morphogenesis", "id": "GO:0042472" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "blood vessel remodeling", "id": "GO:0001974" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "blood circulation", "id": "GO:0008015" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "response to bacterium", "id": "GO:0009617" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "blood vessel development", "id": "GO:0001568" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "heart morphogenesis", "id": "GO:0003007" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "adult walking behavior", "id": "GO:0007628" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "sensory perception of sound", "id": "GO:0007605" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "aorta development", "id": "GO:0035904" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "roof of mouth development", "id": "GO:0060021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010880", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0010880" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "adult heart development", "id": "GO:0007512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "aorta morphogenesis", "id": "GO:0035909" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "artery morphogenesis", "id": "GO:0048844" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "regulation of neurogenesis", "id": "GO:0050767" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "positive regulation of multicellular organism growth", "id": "GO:0040018" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "camera-type eye development", "id": "GO:0043010" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "cardiac septum morphogenesis", "id": "GO:0060411" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "olfactory bulb development", "id": "GO:0021772" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "tissue remodeling", "id": "GO:0048771" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042471", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "ear morphogenesis", "id": "GO:0042471" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021545", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "cranial nerve development", "id": "GO:0021545" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "genitalia development", "id": "GO:0048806" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060123", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "regulation of growth hormone secretion", "id": "GO:0060123" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "cognition", "id": "GO:0050890" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "central nervous system development", "id": "GO:0007417" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "skeletal system development", "id": "GO:0001501" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "retina development in camera-type eye", "id": "GO:0060041" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "face development", "id": "GO:0060324" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "limb development", "id": "GO:0060173" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "rRNA processing", "id": "GO:0006364" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "T cell differentiation", "id": "GO:0030217" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "secondary palate development", "id": "GO:0062009" } ], "total": 48, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 64, "annotation": "n_glycosylation_sequon", "start_pos": 62 }, { "end_pos": 287, "annotation": "n_glycosylation_sequon", "start_pos": 285 }, { "end_pos": 292, "annotation": "n_glycosylation_sequon", "start_pos": 290 }, { "end_pos": 301, "annotation": "n_glycosylation_sequon", "start_pos": 299 }, { "end_pos": 320, "annotation": "n_glycosylation_sequon", "start_pos": 318 }, { "end_pos": 332, "annotation": "n_glycosylation_sequon", "start_pos": 330 }, { "end_pos": 337, "annotation": "n_glycosylation_sequon", "start_pos": 335 }, { "end_pos": 777, "annotation": "n_glycosylation_sequon", "start_pos": 775 }, { "end_pos": 824, "annotation": "n_glycosylation_sequon", "start_pos": 822 }, { "end_pos": 1217, "annotation": "n_glycosylation_sequon", "start_pos": 1215 }, { "end_pos": 1366, "annotation": "n_glycosylation_sequon", "start_pos": 1364 }, { "end_pos": 1439, "annotation": "n_glycosylation_sequon", "start_pos": 1437 }, { "end_pos": 1511, "annotation": 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"A2AJK6", "disease": [], "mass": { "monoisotopic_mass": 334061.0, "chemical_mass": 334061.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "name": "Chd7; A730019I05Rik; Cycn; Cyn; Dz; Edy; Flo; GENA 47; Gena 52; GENA 60; Lda; metis; Mt; Obt; Todo; WBE1; Whi.", "locus": { "end_pos": 8867659, "start_pos": 8690406, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000041235", "id": "ENSMUSG00000041235", "database": "Ensembl Gene" } ] } } ] }