Details for: CHD7
Associated with
Other Information
Genular Protein ID: 2488718549
Symbol: CHD7_HUMAN
Name: Chromodomain-helicase-DNA-binding protein 7
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16421571
Title: DNA sequence and analysis of human chromosome 8.
PubMed ID: 16421571
DOI: 10.1038/nature04406
PubMed ID: 10718198
Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10718198
PubMed ID: 12168954
Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
PubMed ID: 12168954
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17525332
Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
PubMed ID: 17525332
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20453063
Title: CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
PubMed ID: 20453063
DOI: 10.1093/hmg/ddq189
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22646239
Title: Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L.
PubMed ID: 22646239
PubMed ID: 23285124
Title: Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.
PubMed ID: 23285124
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24129315
Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
PubMed ID: 24129315
PubMed ID: 33323470
Title: Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
PubMed ID: 33323470
PubMed ID: 16763960
Title: CHD7 gene and non-syndromic cleft lip and palate.
PubMed ID: 16763960
DOI: 10.1002/ajmg.a.31308
PubMed ID: 22461308
Title: Mutation update on the CHD7 gene involved in CHARGE syndrome.
PubMed ID: 22461308
DOI: 10.1002/humu.22086
PubMed ID: 17603073
Title: Solution structure of the BRK domains from CHD7.
PubMed ID: 17603073
PubMed ID: 15300250
Title: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
PubMed ID: 15300250
DOI: 10.1038/ng1407
PubMed ID: 16400610
Title: Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
PubMed ID: 16400610
DOI: 10.1086/500273
PubMed ID: 17436250
Title: CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.
PubMed ID: 17436250
DOI: 10.1086/513571
PubMed ID: 18834967
Title: Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PubMed ID: 18834967
PubMed ID: 18074359
Title: Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
PubMed ID: 18074359
DOI: 10.1002/ajmg.a.31921
PubMed ID: 18445044
Title: CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
PubMed ID: 18445044
PubMed ID: 19021638
Title: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
PubMed ID: 19021638
PubMed ID: 21158681
Title: Mutations in the CHD7 gene: the experience of a commercial laboratory.
PubMed ID: 21158681
PubMed ID: 21931733
Title: CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
PubMed ID: 21931733
PubMed ID: 21554267
Title: CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
PubMed ID: 21554267
PubMed ID: 22462537
Title: Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
PubMed ID: 22462537
PubMed ID: 25077900
Title: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
PubMed ID: 25077900
DOI: 10.1210/jc.2014-2110
PubMed ID: 25818041
Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
PubMed ID: 25818041
DOI: 10.1111/epi.12954
PubMed ID: 21995344
Title: Unique phenotype in a patient with CHARGE syndrome.
PubMed ID: 21995344
Sequence Information:
- Length: 2997
- Mass: 335927
- Checksum: 5C22675169665CC0
- Sequence:
MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE
Genular Protein ID: 3852869931
Symbol: Q6ZWF9_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 572
- Mass: 62660
- Checksum: D1526C6A3C05195A
- Sequence:
MAPSLRHSVQ QFHHHPSTAL HGESVAHSPR FSPNPPQQGA VRPQTLNFSS RSQTVPSPTI NNSGQYSRYP YSNLNQGLVN NTGMNQNLGL TNNTPMNQSV PRYPNAVGFP SNSGQGLMHQ QPIHPSGSLN QMNTQTMHPS QPQGTYASPP PMSPMKAMSN PAGTPPPQVR PGSAGIPMEV GSYPNIPHPQ PSHQPPGAMG IGQRNMGPRN MQQSRPFIGM SSAPRELTGH MRPNGCPGVG LGDPQAIQER LIPGQQHPGQ QPSFQQLPTC PPLQPHPGLH HQSSPPHPHH QPWAQLHPSP QNTPQKVPVH QHSPSEPFLE KPVPDMTQVS GPNAQLVKSD DYLPSIEQQP QQKKKKKKNN HIVAEDPSKG FGKDDFPGGV DNQELNRNSL DGSQEEKKKK KRSKAKKDPK EPKEPKEKKE PKEPKTPKAP KIPKEPKEKK AKTATPKPKS SKKSSNKKPD SEASALKKKV NKGKTEGPEN SDLDKTPPPS PPPEEDEDPG VQKRRSSRQV KRKRYTEDLE FKISDEEADD ADAAGRDSPS NTSQSEQQES VDAEGPVVEK IMSSRSVKKK KT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.