AutismKB 2.0

Annotation Detail for CHD8


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Basic Information Top
Gene Symbol:CHD8 ( DKFZp686N17164,HELSNF1,KIAA1564 )
Gene Full Name: chromodomain helicase DNA binding protein 8
Band: 14q11.2
Quick LinksEntrez ID:57680; OMIM: 610528; Uniprot ID:CHD8_HUMAN; ENSEMBL ID: ENSG00000100888; HGNC ID: 20153
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
537Phosphothreonine.
550Phosphoserine.
553Phosphoserine.
562Phosphoserine.
951DEAH box.
1398Phosphothreonine.
1420Phosphoserine.
1424Phosphoserine.
1976Phosphoserine.
1993Phosphothreonine.
1995Phosphoserine.
2008Phosphoserine.
2046Phosphoserine.
2069Phosphoserine.
2071Phosphoserine.
2182Phosphoserine.
2200Phosphoserine.
2202Phosphoserine.
2211Phosphoserine.
2518Phosphoserine.
2519Phosphoserine.
Location(AA) Modifications Resource
258Phosphothreonine.Swiss-Prot 53.0
1119Phosphothreonine.Swiss-Prot 53.0
1141Phosphoserine.Swiss-Prot 53.0
1141PhosphoserinePhospho.ELM 6.0
1145Phosphoserine.Swiss-Prot 53.0
1145PhosphoserinePhospho.ELM 6.0
1790Phosphoserine.Swiss-Prot 53.0
1792Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphothreonine(PKA)HMM predict
80O-linkedHMM predict
81O-linkedHMM predict
81O-linkedHMM predict
81Phosphoserine(ATM)HMM predict
90O-linkedHMM predict
91O-linkedHMM predict
95O-linkedHMM predict
130Phosphoserine(ATM)HMM predict
153O-linkedHMM predict
153Phosphoserine(MAPK)HMM predict
153Phosphoserine(IKK)HMM predict
156O-linkedHMM predict
161O-linkedHMM predict
161Phosphoserine(IKK)HMM predict
227Phosphoserine(PKG)HMM predict
242Phosphothreonine(PKC)HMM predict
243Phosphoserine(CK2)HMM predict
248Phosphothreonine(PKC)HMM predict
268N-linkedHMM predict
269Phosphothreonine(PKA)HMM predict
273N-linkedHMM predict
274Phosphoserine(CK1)HMM predict
290Phosphoserine(CK1)HMM predict
307Phosphothreonine(PKA)HMM predict
356N-linkedHMM predict
383Phosphotyrosine(SRC)HMM predict
395N-linkedHMM predict
398Phosphotyrosine(Jak)HMM predict
526Phosphotyrosine(Syk)HMM predict
653Phosphoserine(CK2)HMM predict
718Phosphoserine(ATM)HMM predict
735Phosphothreonine(CK2)HMM predict
938N-linkedHMM predict
1012N-linkedHMM predict
1060Phosphothreonine(PKA)HMM predict
1083N-linkedHMM predict
1126Phosphothreonine(PKA)HMM predict
1126Phosphothreonine(PKC)HMM predict
1145Phosphoserine(CK2)HMM predict
1196Phosphothreonine(PKA)HMM predict
1196Phosphothreonine(PKC)HMM predict
1242N-linkedHMM predict
1287Phosphotyrosine(Jak)HMM predict
1368Phosphothreonine(PKC)HMM predict
1398N-linkedHMM predict
1417Phosphotyrosine(INSR)HMM predict
1417Phosphotyrosine(SRC)HMM predict
1417Phosphotyrosine(Syk)HMM predict
1528Phosphotyrosine(Jak)HMM predict
1697O-linkedHMM predict
1716Phosphoserine(CDC2)HMM predict
1716Phosphoserine(MAPK)HMM predict
1716Phosphoserine(IKK)HMM predict
1729Phosphoserine(IKK)HMM predict
1739O-linkedHMM predict
1769O-linkedHMM predict
1772O-linkedHMM predict
1776O-linkedHMM predict
1790Phosphoserine(CK1)HMM predict
1790Phosphoserine(CK2)HMM predict
1792Phosphoserine(CK1)HMM predict
1797Phosphoserine(CK1)HMM predict
1800Phosphoserine(CDC2)HMM predict
1815Phosphoserine(CK2)HMM predict
1819Phosphoserine(CK2)HMM predict
1836Phosphotyrosine(INSR)HMM predict
1843Phosphoserine(CK1)HMM predict
1847Phosphoserine(ATM)HMM predict
1925Phosphothreonine(MAPK)HMM predict
1932Phosphoserine(CDC2)HMM predict
1936O-linkedHMM predict
1936O-linkedHMM predict
1936Phosphothreonine(MAPK)HMM predict
1936Phosphothreonine(CDK)HMM predict
1940O-linkedHMM predict
1941O-linkedHMM predict
1941Phosphoserine(IKK)HMM predict
1941Phosphoserine(PKB)HMM predict
1944Phosphoserine(CK2)HMM predict
1951O-linkedHMM predict
1955O-linkedHMM predict
2136Phosphoserine(CK1)HMM predict
2173Phosphoserine(CK1)HMM predict
2180Phosphoserine(CK1)HMM predict
2184Phosphoserine(IKK)HMM predict
2185O-linkedHMM predict
2187O-linkedHMM predict
2188Phosphoserine(IKK)HMM predict
2204Phosphoserine(ATM)HMM predict
2239O-linkedHMM predict
2239O-linkedHMM predict
2240O-linkedHMM predict
2240Phosphoserine(CDC2)HMM predict
2243O-linkedHMM predict
2244O-linkedHMM predict
2246O-linkedHMM predict
2272Phosphoserine(ATM)HMM predict
2296Phosphoserine(CK1)HMM predict
2297Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020920
  • Location:chr14 20923197-20975243
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 20974817 20975848 1031 89
Fos K562GSE19551 20975053 20975992 939 279
H3ac HepG2E 20977141 20977907 766 2281
Myc K562GSE19551 20975163 20975556 393 116
P300 T30-glioblastomaGSE21026 20975051 20975956 905 260
p130 QuiescentGSE19898 20975141 20975812 671 233
p130 SenescentGSE19898 20975066 20975757 691 168
p130 shRbQuiescentGSE19898 20974857 20976142 1285 256
p130 shRbSenescentGSE19898 20975118 20975796 678 214
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 20957598 20957798 200 0
H3ac HepG2E 20974337 20976018 1681 0
Oct1 HelaGSE14283 20930726 20930759 33 0
Oct1 HelaGSE14283 20931791 20931820 29 0
USF1 HepG2E 20923972 20924529 557 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
7639 EST chr14 20929406 20929801 180 mRNA CHD8 chr14 20923484 20975242Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018