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)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    57680 (CHD8)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C Chromo BRK ResIII DEAD HDA2-3 MUN Myb_DNA-bind_7
Other DBs
NCBI-GeneID: 57680
NCBI-ProteinID: NP_001164100
OMIM: 610528
HGNC: 20153
Ensembl: ENSG00000100888
UniProt: Q9HCK8
Structure
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (34)   
   KEGG ORTHOLOGY (1)   
   RefGene (23)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (42)   
   RefSeq(nuc) (2)   
   GenBank (20)   
   EMBL (20)   
3D Structure (2)   
   PDB (2)   
Protein domain (9)   
   Pfam (9)   
All databases (98)   

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