AutismKB 2.0

Variant Details 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
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 5 49 0 17 1 0 72
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0004890 14 14q11.2 21823852 21937621 113769 loss external link Prontera P, 2014
AutCNV0005159 16 16p13.11 15048751 16305736 1256985 gain external link Pinto AM, 2015
AutCNV0004985 14 14q11.2 21751147 21945416 194269 loss external link Drabova J, 2015
AutCNV0005124 3 3q29 193046853 194407385 1360532 loss external link Biamino E, 2016
AutCNV0005764 14 gain C Yuen RK, 2017
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
14 21861376 * 2D, -CT Sanger sequencing O'Roak BJ, 2012
14 21871178 G R Sanger sequencing O'Roak BJ, 2012
14 21899618 G S p.Ser62Unk Sanger sequencing O'Roak BJ, 2012
14 21878133 * +T/* p.Tyr747Unk Sanger sequencing O'Roak BJ, 2012
14 21871373 T Y c.3519-2A>G Sanger sequencing O'Roak BJ, 2012
14 21871178 G R p.Gln1238Unk Sanger sequencing O'Roak BJ, 2012
14 21870169 G R p.Arg1337Unk Sanger sequencing O'Roak BJ, 2012
14 21861643 * -CTTC/* p.Glu2103ArgfsX3 Sanger sequencing O'Roak BJ, 2012
14 21861376 * -CT/* p.Leu2120ProfsX13 Sanger sequencing O'Roak BJ, 2012
14 21859175 * +T/* p.Asn2371LysfsX2 Sanger sequencing O'Roak BJ, 2012
14 21854022 * -GGT/* p.His2498del Sanger sequencing O'Roak BJ, 2012
14 21870652 C T Sanger sequencing deleterious0.9966 De Rubeis S, 2014
14 21876700 A G Sanger sequencing deleterious0.9997 De Rubeis S, 2014
14 21868219 G A c.4738C>T p.Arg1580Trp PCR and Sanger sequencing deleterious0.9942 O'Roak BJ, 2014
14 21899168 C T c.635G>A p.Arg212Gln PCR and Sanger sequencingneutral0.2741 O'Roak BJ, 2014
14 21876489 C T c.2712G>A p.Met904Ile PCR and Sanger sequencing deleterious0.5628 O'Roak BJ, 2014
14 21882516 G T c.2086C>A p.Gln696Lys PCR and Sanger sequencing deleterious0.9662 O'Roak BJ, 2014
14 21862535 G A c.5500C>T p.Arg1834Ter PCR and Sanger sequencing O'Roak BJ, 2014
14 21865980 A T c.5051+2T>A PCR and Sanger sequencing O'Roak BJ, 2014
14 21867866 T G c.4818-2A>C PCR and Sanger sequencing O'Roak BJ, 2014
14 21862265 G GT c.5688dup p.Arg1897Thrfs*23 Sanger sequencing Wang T, 2016
14 21871185 AT A c.3704del p.Asn1235Metfs*18 Sanger sequencing Wang T, 2016
14 21878123 AT A c.2250del p.Lys750Asnfs*14 Sanger sequencing Wang T, 2016
14 21882530 T C/T Sanger sequencing deleterious0.9737 Wang T, 2016
14 21868156 A c.4799_4800delTAinsT p.Gly1602ValfsTer13 Stessman HA, 2017
14 21871807 TTTTTTTC c.3316_3322delGAAAAAAinsGAAAAAAA p.Ile1108AsnfsTer7 Stessman HA, 2017
14 21897242 A c.1096C>T p.Gln366Ter Stessman HA, 2017
14 21861804 G GT HiSeq X and Sanger C Yuen RK, 2017
14 21865979 A T HiSeq X and Sanger C Yuen RK, 2017
14 21861804 G GT HiSeq X and Sanger C Yuen RK, 2017
14 21865979 A T HiSeq X and Sanger C Yuen RK, 2017
14 21862265 C T c.5688dupA p.Arg1897fs Sanger sequencing Li J, 2017
14 21873391 C T deleterious0.999 Chen R, 2017
0 Redin C, 2017
14 21859175 A AT c.7112dupA p.Asn2371LysfsTer2 Y O'Roak BJ, 2014
14 21899618 G C c.185C>G p.Ser62Ter Y O'Roak BJ, 2014
14 21871373 T C c.3519-2A>G c.3519-2A>G Y O'Roak BJ, 2014
14 21854022 GGGT G c.7493_7495delACC p.His2498del Y O'Roak BJ, 2014
14 21878133 G GT c.2240dupA p.Tyr747Ter Y O'Roak BJ, 2014
14 21861643 TCTTC T c.6307_6310delGAAG p.Glu2103ArgfsTer3 Y O'Roak BJ, 2014
14 22829778 G p.Ser62X O'Roak BJ, 2012
14 22808293 p.Tyr747X O'Roak BJ, 2012
14 22801533 T c.3519-2A>G O'Roak BJ, 2012
14 22800329 G p.Arg1337X O'Roak BJ, 2012
14 22791803 p.Glu2103ArgfsX3 O'Roak BJ, 2012
14 22789335 p.Asn2371LysfsX2 O'Roak BJ, 2012
14 22784182 p.His2498del O'Roak BJ, 2012
14 22801338 G p.Gln1238X O'Roak BJ, 2012
14 22791536 p.Leu2120ProfsX13 O'Roak BJ, 2012
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
14 21871618 T G Deciphering Developmental Disorders Study., 2015
14 21860919 McCarthy SE, 2014
14 21899387 G C/G Y Wang T, 2016
14 21859683 G A/G Y Wang T, 2016
14 21861665 C C/G Y Wang T, 2016
14 21897245 G C/G Y Wang T, 2016
14 21860964 C C/T Y Wang T, 2016
14 21897151 A A/G Y Wang T, 2016
14 21863090 G A/G Y Wang T, 2016
14 21854308 G A/G Y Wang T, 2016
14 21862229 G A/G Y Wang T, 2016
14 21861748 G A/G Y Wang T, 2016
14 21860704 C C/T Y Wang T, 2016
14 21859777 G A/G Y Wang T, 2016
14 21854250 C C/T Y Wang T, 2016
14 21861785 T C/T Y Wang T, 2016
14 21860701 T G/T Y Wang T, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
p.Arg1797Gln Y Bernier R, 2014
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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


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