KEGG   Homo sapiens (human): 57680
Entry
57680             CDS       T01001                                 
Symbol
CHD8, AUTS18, HELSNF1, IDDAM
Name
(RefSeq) chromodomain helicase DNA binding protein 8
  KO
K04494  chromodomain helicase DNA binding protein 8 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
Disease
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    57680 (CHD8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    57680 (CHD8)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.-
     57680 (CHD8)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    57680 (CHD8)
SSDB
Motif
Pfam: SNF2-rel_dom Chromo Helicase_C BRK ResIII DEAD Myb_DNA-bind_7
Other DBs
NCBI-GeneID: 57680
NCBI-ProteinID: NP_001164100
OMIM: 610528
HGNC: 20153
Ensembl: ENSG00000100888
Pharos: Q9HCK8(Tbio)
UniProt: Q9HCK8
Structure
LinkDB
Position
14:complement(21385199..21456123)
AA seq 2581 aa
MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGN
SSASELVPPPEETAPTELSKESTAPAPESITLHDYTTQPASQEQPAQPVLQTSTPTSGLL
QVSKSQEILSQGNPFMGVSATAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQA
QGITSTAQPLVAGTANGGKVTFTKVLTGTPLRPGVSIVSGNTVLAAKVPGNQAAVQRIVQ
PSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQ
GHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSS
QPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVK
VLSASEVAALSSPASSAPHSGGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNI
PRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGASKTKGKSKLNTITPVV
GKKRKRNTSSDNSDVEVMPAQSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEE
EVDVTGPIKPEPILPEPVQEPDGETLPSMQFFVENPSEEDAAIVDKVLSMRIVKKELPSG
QYTEAEEFFVKYKNYSYLHCEWATISQLEKDKRIHQKLKRFKTKMAQMRHFFHEDEEPFN
PDYVEVDRILDESHSIDKDNGEPVIYYLVKWCSLPYEDSTWELKEDVDEGKIREFKRIQS
RHPELKRVNRPQASAWKKLELSHEYKNRNQLREYQLEGVNWLLFNWYNRQNCILADEMGL
GKTIQSIAFLQEVYNVGIHGPFLVIAPLSTITNWEREFNTWTEMNTIVYHGSLASRQMIQ
QYEMYCKDSRGRLIPGAYKFDALITTFEMILSDCPELREIEWRCVIIDEAHRLKNRNCKL
LDSLKHMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSQFPSESEFLKDFGDLKTEEQVQK
LQAILKPMMLRRLKEDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLSKGAGHTN
MPNLLNTMMELRKCCNHPYLINGAEEKILTEFREACHIIPHDFHLQAMVRSAGKLVLIDK
LLPKLKAGGHKVLIFSQMVRCLDILEDYLIQRRYLYERIDGRVRGNLRQAAIDRFSKPDS
DRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITR
NSYEREMFDKASLKLGLDKAVLQSMSGRDGNITGIQQFSKKEIEDLLRKGAYAAIMEEDD
EGSKFCEEDIDQILLRRTTTITIESEGKGSTFAKASFVASENRTDISLDDPNFWQKWAKK
ADLDMDLLNSKNNLVIDTPRVRKQTRHFSTLKDDDLVEFSDLESEDDERPRSRRHDRHHA
YGRTDCFRVEKHLLVYGWGRWRDILSHGRFKRRMTERDVETICRAILVYCLLHYRGDENI
KGFIWDLISPAENGKTKELQNHSGLSIPVPRGRKGKKVKSQSTFDIHKADWIRKYNPDTL
FQDESYKKHLKHQCNKVLLRVRMLYYLRQEVIGDQAEKVLGGAIASEIDIWFPVVDQLEV
PTTWWDSEADKSLLIGVFKHGYEKYNTMRADPALCFLEKAGRPDDKAIAAEHRVLDNFSD
IVEGVDFDKDCEDPEYKPLQGPPKDQDDEGDPLMMMDEEISVIDGDEAQVTQQPGHLFWP
PGSALTARLRRLVTAYQRSYKREQMKIEAAERGDRRRRRCEAAFKLKEIARREKQQRWTR
REQTDFYRVVSTFGVEYDPDTMQFHWDRFRTFARLDKKTDESLTKYFHGFVAMCRQVCRL
PPAAGDEPPDPNLFIEPITEERASRTLYRIELLRRLREQVLCHPLLEDRLALCQPPGPEL
PKWWEPVRHDGELLRGAARHGVSQTDCNIMQDPDFSFLAARMNYMQNHQAGAPAPSLSRC
STPLLHQQYTSRTASPLPLRPDAPVEKSPEETATQVPSLESLTLKLEHEVVARSRPTPQD
YEMRVSPSDTTPLVSRSVPPVKLEDEDDSDSELDLSKLSPSSSSSSSSSSSSSSTDESED
EKEEKLTDQSRSKLYDEESLLSLTMSQDGFPNEDGEQMTPELLLLQERQRASEWPKDRVL
INRIDLVCQAVLSGKWPSSRRSQEMVTGGILGPGNHLLDSPSLTPGEYGDSPVPTPRSSS
AASMAEEEASAVSTAAAQFTKLRRGMDEKEFTVQIKDEEGLKLTFQKHKLMANGVMGDGH
PLFHKKKGNRKKLVELEVECMEEPNHLDVDLETRIPVINKVDGTLLVGEDAPRRAELEMW
LQGHPEFAVDPRFLAYMEDRRKQKWQRCKKNNKAELNCLGMEPVQTANSRNGKKGHHTET
VFNRVLPGPIAPESSKKRARRMRPDLSKMMALMQGGSTGSLSLHNTFQHSSSGLQSVSSL
GHSSATSASLPFMPFVMGGAPSSPHVDSSTMLHHHHHHPHPHHHHHHHPGLRAPGYPSSP
VTTASGTTLRLPPLQPEEDDDEDEEDDDDLSQGYDSSERDFSLIDDPMMPANSDSSEDAD
D
NT seq 7746 nt   +upstreamnt  +downstreamnt
atggcagaccccatcatggatctgttcgatgacccaaatttatttggcctggactctctg
actgatgacagctttaaccaggtcacacaagaccccattgaggaagcccttggactgcca
agctctctggactccttggatcagatgaaccaggatggtggaggtggtgatgtggggaat
tcatcagcaagtgaactggtccctccaccagaggaaacagctcccacagaactttccaaa
gaatccacagctccagctccagaatccataaccttgcatgattataccactcagcctgcc
agccaggagcagccagcccaacctgtcttacagacatcgacgccaacatcaggacttttg
caagtctccaagagccaggagatcctgagccaagggaatcctttcatgggtgtctctgcc
acagctgtctcctccagtagtgctggagggcagccacctcagtcagcccctaagattgtt
atccttaaggccccaccaagctcctcagtcactggtgcccatgtggcacaaattcaggcc
caaggtatcaccagcacagctcagcccctggtggcaggcacagccaatggtggaaaagtc
acttttaccaaagtgctaaccggcacaccccttcgaccaggtgtttccattgtctctggt
aatacagtgttggccgccaaggtccctgggaaccaggctgctgttcagcgcattgtccag
cccagccgaccagtaaagcagctggtcctccagccagttaagggttcagctcctgctgga
aaccctggggccacagggcccccactgaagcctgcagttacactgacctctacacctacc
cagggtgaatcgaaacgcatcaccctggtcctccagcagccacagtctggaggtccccaa
ggacatcggcatgttgtgctagggagtctaccaggcaagatagtgttacagggcaaccag
ctggcagccctgactcaagccaagaatgcccaagggcagcctgccaaggtagtaactatc
cagctgcaggtgcagcagccacagcaaaaaatccagattgtaccacaaccaccatcatcg
cagccacagccccagcagccaccctccacccagccagtgactctgtcctctgtacagcag
gctcagataatgggaccaggacaaagcccaggacaaagactttcagtaccagtcaaggtg
gtactgcagccacaggctggctcttcccaaggggcctcttctgggctctctgtagttaaa
gttctgagtgccagtgaagtggcagctttgtcatcaccagcaagctctgctcctcattcg
gggggaaagacaggaatggaggaaaaccgcagattggaacaccagaagaagcaagagaaa
gcaaatcggattgtagcagaggccattgcgagagcccgtgcccgcggtgagcagaacata
cctcgagtcttaaatgaggacgagttgcccagcgttcggccagaggaggaaggcgagaag
aaacgcaggaagaagagtgctggggagaggctgaaagaggagaagccaaagaagagtaaa
acatctggtgcctccaaaacaaagggcaagagcaagctcaacaccatcactcctgtagtg
ggtaagaagagaaaacgtaatacctcatctgataattcagatgtggaagtcatgcctgca
cagtcacctcgagaagatgaagaaagcagcattcagaagagacgctcaaaccgccaagtt
aagcgaaaaaaatatacagaggacctggatataaagatcacagatgatgaagaagaagaa
gaggtggatgtaactggtccaataaaacctgagcctatcctccctgaaccagtgcaagaa
ccagatggcgagactttgccttccatgcagttctttgtggagaatcccagtgaagaagat
gcagccattgtagacaaagtgctttctatgcggattgtgaagaaggagctcccttctgga
caatatactgaagcagaagaattctttgtcaagtacaagaactactcctatctgcattgt
gaatgggctactatctcccaactagagaaggataagaggatacatcaaaaattaaagcgc
ttcaaaaccaaaatggctcagatgagacacttcttccatgaggatgaagagccctttaat
ccagactacgtagaggtggataggatattggatgagtctcacagtattgacaaggacaat
ggggagcccgttatttactacctggtgaaatggtgctctctgccctatgaggatagcaca
tgggagctaaaagaagatgttgatgagggcaagattcgagaatttaaacggattcagtca
aggcacccagaactcaaaagggtgaatcgtccgcaggcaagtgcctggaagaaattggag
ctatcacatgaatataaaaacagaaaccagctacgggaatatcagttggaaggggttaat
tggctgctctttaattggtataacaggcagaactgcatcctggctgatgagatgggattg
ggcaaaactattcagtccattgccttcttgcaggaagtatataatgtgggcatccatggt
cccttcttggtcattgccccactgtccacaattactaactgggagcgagaatttaataca
tggacagaaatgaacactattgtgtaccatggcagtctggccagcaggcagatgattcaa
cagtatgaaatgtactgcaaagattcacggggacgcctcatcccaggcgcatacaagttt
gacgctctgatcaccacttttgagatgattttgtcagattgtcctgagcttcgtgaaatt
gaatggcgttgtgttatcattgatgaagcccatcgactgaaaaaccgtaattgcaagctg
cttgatagtctcaagcacatggacctggaacacaaggtgctactcacaggaacaccattg
caaaatactgtagaagaactgtttagcttgcttcatttcttggaaccgtcacaatttccc
tcagaatcagagtttctcaaggactttggggatctcaagacagaggaacaggttcaaaag
ctacaggccattcttaagccaatgatgctgagaagactcaaagaggatgttgaaaaaaac
ttggcacccaaacaggaaacaattattgaagtagagctgactaatatccagaagaaatac
tatcgggctattttggagaagaatttctccttcctttccaaaggggcaggtcataccaac
atgcctaatctacttaacacaatgatggagttgcgcaagtgctgcaaccacccatatctc
atcaatggtgctgaagaaaaaatcctaacagaattccgtgaagcttgccatattatacct
catgactttcacctgcaggccatggttcgttcagccggcaaactggttcttattgacaag
ttgcttccaaagcttaaagctggtggccataaagttctgatcttctctcagatggtgcgc
tgcctagacatcctagaggattatttaatccagaggaggtacttatatgaacgtattgat
gggcgagttagaggcaaccttcgacaggctgccattgaccgcttcagcaagcctgactca
gaccgctttgtcttcttactgtgtacccgggctggtggacttggtattaatcttacagct
gctgatacctgcatcatctttgattcagactggaatccacaaaatgacctgcaggcccag
gcacgatgtcatcgaattgggcagagcaaagctgtgaaggtgtaccgcctcatcactcgt
aattcctacgagagagagatgtttgataaggccagcctcaagttggggttggataaggct
gtgcttcaatccatgagtggtcgggatggcaacattactggaatccaacagttctctaag
aaggagattgaagatcttttaagaaaaggagcatatgcagccatcatggaggaagatgat
gaaggctccaagttttgtgaagaggacattgaccagatcttgttaagacgaactacaacc
atcaccattgaatctgaaggaaaaggttccacctttgctaaggcaagctttgttgcttct
gaaaacaggacagatatttctttggatgaccccaacttttggcaaaagtgggccaaaaag
gctgacctagacatggatctgctcaacagcaagaataatttggtaattgacacacctaga
gtacgaaaacaaacgcgccactttagcactctgaaagatgatgacctggtggaattctct
gatttggaaagtgaggatgatgagcggccacgctcccgcagacatgaccgtcatcatgcc
tatgggcgcactgactgctttcgggtggaaaagcatctcctggtatatggttggggacga
tggcgagatattttatctcatggacgcttcaagcgacgtatgactgaacgagatgtggag
accatttgtcgggccattctcgtgtactgtcttctacactaccgtggggatgaaaatatt
aaaggcttcatctgggacttgattagcccagctgaaaatggcaagacaaaagaattgcag
aatcattcaggtctatctatccctgtgcctcgtggacgcaaaggaaaaaaagtaaagtca
caaagcacttttgatatccataaggcagattggatccggaaatataaccctgacactttg
ttccaagatgaaagttataagaagcacttgaaacatcagtgtaacaaggtactgttgcgg
gtacgaatgctatactacctgaggcaggaggttattggagaccaagcagaaaaggtgtta
gggggtgcgattgccagtgagattgacatatggttcccagtagtggatcaactggaggtt
ccaacaacttggtgggacagtgaggctgacaagtcgctgctcattggagtctttaaacat
ggctatgagaaatataataccatgagggcagacccagccttatgtttcctagaaaaggct
ggccgaccagatgacaaagcaattgcagcagaacatcgagtgttggataacttctctgac
atagtagaaggggttgactttgataaagattgtgaagatcctgaatataaaccactccaa
ggtcccccaaaggaccaagatgatgagggtgatcccttgatgatgatggatgaggagatc
tcagtgattgatggagatgaagcccaggtgacccaacagccaggccatttattctggcct
ccgggctctgccctaacagctaggcttcggcgtctagtaacagcgtatcagcgcagctac
aagagagaacaaatgaagatagaggctgcagaacgtggggaccggcgaaggcggcgttgt
gaagcagccttcaagctgaaagaaattgcacggcgggagaaacaacaacgatggacaagg
cgtgaacaaactgatttttatcgagtggtgtctacgtttggtgtggaatatgaccctgac
accatgcagttccattgggatcgcttccgcacttttgctcgactagacaaaaagacagat
gaaagccttaccaagtacttccatggctttgtggccatgtgccgccaagtatgccgcctt
cccccagcagctggagatgaaccccccgaccctaacctgttcattgagcccatcactgag
gagagagcctcacggactctctaccgtatagaattgcttcggcgcttacgggaacaagtt
ttatgccacccccttttggaagatcggctggcattgtgtcagcctcctggtcctgaattg
cccaaatggtgggagcctgttcggcatgatggggagcttctaagaggggcagcccgccat
ggggtgagccaaacagactgcaacatcatgcaggacccagacttctcttttctggctgcc
cgtatgaattatatgcagaaccatcaagcaggagcaccagctccatccttgtcacgctgc
tctactccactgctgcaccagcagtatacctcacgcactgcctcaccactgcccctgcgc
ccagatgctcctgttgaaaagtcacccgaggagacagctacccaggtccccagtctggag
agtctgactttaaagctagagcacgaggtggtggccaggagccgaccaaccccacaagac
tatgagatgcgagtatccccctctgatactacccctctggtttcccggagtgttccacca
gtcaaactggaggatgaggatgattcggactctgagctggacttgagcaagctgtcacca
tcttcttcttcttcctcatcctcatccagctccagctccagcactgatgagagtgaggat
gagaaggaagagaagctaactgaccagtcccgctcaaagctctatgatgaagagagtctc
ctgtccctcactatgtcccaagatggattcccaaatgaagatggagaacaaatgacccct
gagcttctgctactgcaggaaagacaaagagcctctgagtggcccaaggatcgtgtcctg
ataaaccgtattgacctcgtctgccaggctgtactctcagggaagtggccttctagccgt
aggagccaggaaatggtaacaggaggaattttggggccaggcaaccacttgctagacagt
ccctcattgactcctggagaatatggtgactctccagtccccacaccacgaagtagtagt
gcagcttccatggcagaggaggaagcatctgcagtcagcacagcggcagcccagttcacc
aaacttcgccgaggcatggatgaaaaggagtttacagttcaaatcaaagatgaggaagga
ttgaagttaacattccagaagcacaagttgatggcgaatggagtaatgggagatggacat
ccactgtttcataagaagaaggggaacagaaagaagctagtagagctggaggtggagtgc
atggaagagcctaatcaccttgatgtggacctggagacccggatccctgtcatcaataag
gtggatggtactttgctggtgggtgaggatgcccctcgccgggctgaactggagatgtgg
ttacagggtcatccagagtttgctgttgatccccgatttctagcgtatatggaggatcgc
agaaaacagaagtggcaaagatgtaaaaaaaataataaggcagaattgaactgtttggga
atggaaccagtacagacagctaactctagaaatgggaaaaagggtcatcacactgaaacg
gtgttcaaccgggttttgccagggcctattgcaccagagagcagcaagaagcgggcccgt
aggatgcgaccagacctttctaagatgatggccctcatgcagggtggaagcactgggtct
ctatctctgcataacacgttccaacacagcagtagtggcctacagtctgtgtcatctttg
ggtcacagcagtgccacttctgcatctttgccttttatgccatttgtgatgggtggtgca
ccatcatcccctcatgtagactccagcaccatgcttcatcaccaccaccaccacccccac
ccccaccatcaccaccatcaccatccaggcttgagagcccctggctacccctcttcacca
gtgactaccgcctctggtactaccttgcggttgccaccactgcaacctgaggaggatgac
gatgaggatgaagaagatgatgatgacttatctcagggctatgatagctcagaaagggac
ttctcactcattgatgatcctatgatgccagctaactcagactccagtgaagatgctgat
gactga

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