Evidence Details for CHD7

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Basic Information Top

Gene Symbol:	CHD7 ( FLJ20357,FLJ20361,IS3,KAL5,KIAA1416 )
Gene Full Name:	chromodomain helicase DNA binding protein 7
Band:	8q12.2
Quick Links	Entrez ID:55636; OMIM: 608765,608892; Uniprot ID:CHD7_HUMAN; ENSEMBL ID: ENSG00000171316; HGNC ID: 20626
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>CHD7|55636|nucleotide
ATGGCAGATCCAGGAATGATGAGTCTTTTTGGCGAGGATGGGAATATTTTCAGTGAAGGTCTTGAAGGCCTCGGAGAATGTGGTTACCCGGAAAATCCAGTAAAT
CCTATGGGTCAGCAAATGCCAATAGACCAAGGCTTTGCCTCTTTACAGCCATCCCTTCATCATCCTTCAACTAATCAAAATCAAACAAAGCTGACACATTTTGAT
CACTATAATCAGTATGAACAACAAAAGATGCATCTGATGGATCAGCCGAACAGAATGATGAGCAACACCCCTGGGAACGGACTCGCGTCTCCGCACTCGCAGTAT
CACACCCCTCCCGTTCCTCAGGTGCCCCATGGTGGCAGTGGTGGCGGTCAGATGGGTGTCTACCCTGGCATGCAGAATGAGAGGCATGGGCAATCCTTTGTGGAC
AGCAGCTCCATGTGGGGCCCCAGGGCTGTTCAGGTACCAGACCAGATACGAGCCCCCTACCAGCAGCAGCAGCCACAGCCGCAGCCACCGCAGCCGGCTCCGTCG
GGGCCCCCTGCACAGGGCCACCCTCAGCACATGCAGCAGATGGGCAGCTATATGGCACGTGGGGATTTTTCCATGCAGCAGCATGGTCAGCCACAGCAGAGGATG
AGCCAGTTTTCCCAAGGCCAAGAGGGCCTCAATCAGGGAAATCCTTTTATTGCCACCTCAGGACCTGGCCACTTGTCCCACGTGCCCCAGCAGAGTCCCAGCATG
GCACCTTCCTTGCGTCACTCGGTGCAGCAGTTCCATCACCACCCCTCTACTGCTCTCCATGGAGAATCCGTTGCCCACAGTCCCAGATTCTCCCCGAATCCTCCC
CAACAAGGGGCTGTTAGGCCGCAAACCCTTAACTTTAGTTCTCGGAGCCAGACAGTCCCCTCTCCTACTATAAACAACTCAGGGCAGTATTCTCGATATCCTTAC
AGTAACCTAAATCAGGGATTAGTTAACAATACAGGGATGAATCAAAATTTAGGCCTTACAAATAATACTCCAATGAATCAGTCCGTACCAAGATACCCCAATGCT
GTAGGATTCCCATCAAACAGTGGTCAAGGACTAATGCACCAGCAGCCCATCCACCCCAGTGGCTCACTTAACCAAATGAACACACAAACTATGCATCCTTCACAG
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>CHD7|55636|protein
MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQY
HTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRM
SQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTINNSGQYSRYPY
SNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGI
PMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHH
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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)	Yes	0 (1)	0 (0)	0 (0)	0 (0)	0 (0)	1 (4)	0 (0)	1 (1)	0 (0)	18 (6)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AD
OMIM	CHARGE syndrome (214800)
Description	CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies); 68% (17/25) have ASD/autistic traits
Reference(s)	15637726; 16359593; 15688419; 19709852; 19664354; 15633180;
Level	Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

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

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

AutismKB 2.0

Evidence Details for CHD7