Evidence 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 Links	Entrez ID:57680; OMIM: 610528; Uniprot ID:CHD8_HUMAN; ENSEMBL ID: ENSG00000100888; HGNC ID: 20153
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>CHD8|57680|nucleotide
ATGGCAGACCCCATCATGGATCTGTTCGATGACCCAAATTTATTTGGCCTGGACTCTCTGACTGATGACAGCTTTAACCAGGTCACACAAGACCCCATTGAGGAA
GCCCTTGGACTGCCAAGCTCTCTGGACTCCTTGGATCAGATGAACCAGGATGGTGGAGGTGGTGATGTGGGGAATTCATCAGCAAGTGAACTGGTCCCTCCACCA
GAGGAAACAGCTCCCACAGAACTTTCCAAAGAATCCACAGCTCCAGCTCCAGAATCCATAACCTTGCATGATTATACCACTCAGCCTGCCAGCCAGGAGCAGCCA
GCCCAACCTGTCTTACAGACATCGACGCCAACATCAGGACTTTTGCAAGTCTCCAAGAGCCAGGAGATCCTGAGCCAAGGGAATCCTTTCATGGGTGTCTCTGCC
ACAGCTGTCTCCTCCAGTAGTGCTGGAGGGCAGCCACCTCAGTCAGCCCCTAAGATTGTTATCCTTAAGGCCCCACCAAGCTCCTCAGTCACTGGTGCCCATGTG
GCACAAATTCAGGCCCAAGGTATCACCAGCACAGCTCAGCCCCTGGTGGCAGGCACAGCCAATGGTGGAAAAGTCACTTTTACCAAAGTGCTAACCGGCACACCC
CTTCGACCAGGTGTTTCCATTGTCTCTGGTAATACAGTGTTGGCCGCCAAGGTCCCTGGGAACCAGGCTGCTGTTCAGCGCATTGTCCAGCCCAGCCGACCAGTA
AAGCAGCTGGTCCTCCAGCCAGTTAAGGGTTCAGCTCCTGCTGGAAACCCTGGGGCCACAGGGCCCCCACTGAAGCCTGCAGTTACACTGACCTCTACACCTACC
CAGGGTGAATCGAAACGCATCACCCTGGTCCTCCAGCAGCCACAGTCTGGAGGTCCCCAAGGACATCGGCATGTTGTGCTAGGGAGTCTACCAGGCAAGATAGTG
TTACAGGGCAACCAGCTGGCAGCCCTGACTCAAGCCAAGAATGCCCAAGGGCAGCCTGCCAAGGTAGTAACTATCCAGCTGCAGGTGCAGCAGCCACAGCAAAAA
ATCCAGATTGTACCACAACCACCATCATCGCAGCCACAGCCCCAGCAGCCACCCTCCACCCAGCCAGTGACTCTGTCCTCTGTACAGCAGGCTCAGATAATGGGA
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>CHD8|57680|protein
MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGNSSASELVPPPEETAPTELSKESTAPAPESITLHDYTTQPASQEQP
AQPVLQTSTPTSGLLQVSKSQEILSQGNPFMGVSATAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQAQGITSTAQPLVAGTANGGKVTFTKVLTGTP
LRPGVSIVSGNTVLAAKVPGNQAAVQRIVQPSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQGHRHVVLGSLPGKIV
LQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSSQPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVK
VLSASEVAALSSPASSAPHSGGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNIPRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGAS
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	2 (5)	0 (0)	0 (0)	0 (0)	3 (12)	0 (0)	2 (3)	1 (1)	60 (21)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Prontera P, 2014	-	aCGH			ASD	-	-	-	-	1	-	1
Pinto AM, 2015	-	aCGH	-	-	autism	-	-	-	-	2	-	2
Drabova J, 2015	Czech	aCGH	-	-	autistic	-	-	-	-	1	-	1
Biamino E, 2016	-	aCGH			ASD	1	-	1	-	1	-	1
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Reference	Source	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Source	Platfrom	ASD Cases	Normal Controls	Result
ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
O'Roak BJ, 2012	1703	209	242	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ, 2012	2446	-	46	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism
O'Roak BJ, 2014	3486	-	59	Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Wang T, 2016	1543	1045	54	De novo genic mutations among a Chinese autism spectrum disorder cohort
Stessman HA, 2017	6342	-	74	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
C Yuen RK, 2017	1625	-	237	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Li J, 2017	536	-	22	Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au
Chen R, 2017	107	116	128	Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
Redin C, 2017	28	-	34	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
McCarthy SE, 2014	-	Illumina HiSeq2000			autism	-	-	-	-	-
Deciphering Developmental Disorders Study., 2015	-	-	-	-	ASD	-	-	-	14	-
Wang T, 2016	China	Illumina HiSeq 2000			ASD	1045	-	-	1543	PCR and Sanger sequencing

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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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

AutismKB 2.0

Evidence Details for CHD8

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics