Evidence Details for DOCK4

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Basic Information Top

Gene Symbol:	DOCK4 ( FLJ34238,KIAA0716,MGC134911,MGC134912 )
Gene Full Name:	dedicator of cytokinesis 4
Band:	7q31.1
Quick Links	Entrez ID:9732; OMIM: 607679; Uniprot ID:DOCK4_HUMAN; ENSEMBL ID: ENSG00000128512; HGNC ID: 19192
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>DOCK4|9732|nucleotide
ATGTGGATACCTACGGAGCACGAGAAATACGGCGTGGTTATTGCCAGTTTCCGAGGAACCGTTCCATATGGCCTGTCATTGGAAATTGGAGATACAGTTCAGATC
CTGGAGAAGTGTGATGGCTGGTACAGAGGATTTGCCTTAAAAAACCCAAATATCAAGGGTATATTTCCTTCCAGCTACGTTCACTTGAAAAATGCCTGTGTAAAG
AACAAAGGACAATTTGAAATGGTTATTCCCACTGAAGACTCTGTTATCACAGAAATGACATCAACATTAAGAGACTGGGGAACCATGTGGAAACAACTCTATGTG
CGTAATGAAGGCGATCTCTTCCACCGGCTGTGGCACATCATGAATGAAATCCTGGACCTGAGGCGGCAGGTGCTGGTGGGCCACCTCACCCACGACCGGATGAAG
GACGTGAAGCGCCACATTACTGCCCGGCTTGACTGGGGCAATGAACAACTGGGACTGGACCTGGTGCCTAGGAAAGAGTACGCAATGGTGGATCCGGAAGACATC
AGCATTACTGAGCTCTACCGATTGATGGAACATCGACATCGGAAGAAAGACACCCCGGTGCAGGCCAGCAGTCACCACCTCTTTGTCCAGATGAAGAGCCTCATG
TGTTCCAACCTGGGAGAGGAGCTGGAGGTCATCTTCTCACTCTTTGACAGTAAAGAGAACCGGCCAATCAGTGAGAGATTTTTCTTGAGGCTGAATAGAAACGGG
CTTCCCAAAGCCCCTGATAAACCGGAACGACATTGCTCCCTCTTTGTGGATTTGGGCAGCAGTGAGCTAAGAAAGGACATTTATATCACCGTGCACATTATCCGA
ATCGGTCGAATGGGAGCAGGAGAAAAAAAGAATGCCTGTAGTGTCCAGTACCGACGACCCTTTGGCTGTGCAGTTCTTAGCATCGCTGACCTGCTAACAGGAGAG
ACAAAGGATGACCTCATTCTGAAAGTATACATGTGTAACACAGAGAGTGAGTGGTACCAAATCCATGAGAACATCATCAAAAAGCTGAATGCACGTTATAACTTG
ACTGGCTCCAATGCAGGTTTAGCAGTTTCCTTACAGCTATTGCACGGAGACATTGAACAAATCAGAAGGGAATATTCATCAGTATTTTCTCATGGAGTATCCATA
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>DOCK4|9732|protein
MWIPTEHEKYGVVIASFRGTVPYGLSLEIGDTVQILEKCDGWYRGFALKNPNIKGIFPSSYVHLKNACVKNKGQFEMVIPTEDSVITEMTSTLRDWGTMWKQLYV
RNEGDLFHRLWHIMNEILDLRRQVLVGHLTHDRMKDVKRHITARLDWGNEQLGLDLVPRKEYAMVDPEDISITELYRLMEHRHRKKDTPVQASSHHLFVQMKSLM
CSNLGEELEVIFSLFDSKENRPISERFFLRLNRNGLPKAPDKPERHCSLFVDLGSSELRKDIYITVHIIRIGRMGAGEKKNACSVQYRRPFGCAVLSIADLLTGE
TKDDLILKVYMCNTESEWYQIHENIIKKLNARYNLTGSNAGLAVSLQLLHGDIEQIRREYSSVFSHGVSITRKLGFSNIIMPGEMRNDLYITIERGEFEKGGKSV
ARNVEVTMFIVDSSGQTLKDFISFGSGEPPASEYHSFVLYHNNSPRWSELLKLPIPVDKFRGAHIRFEFRHCSTKEKGEKKLFGFSFVPLMQEDGRTLPDGTHEL
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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	2 (4)	0 (5)	1 (1)	1 (2)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	12 (13)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 2

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Maestrini, 2009_3	Replication	the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms	390	390 (-)			ASD	- -	- -
Maestrini, 2009_2	Discovery	GoldenGate assay (Illumina, San Diego, CA, USA)	127	127 (-)			ASD	- -	- -

Case Control Based Association Studies: 2

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
CAUCASIAN
Maestrini, 2009_5	Discovery	GoldenGate assay (Illumina, San Diego, CA, USA)	127 (20.47%)			ASD	- -	-	188 (21.28%)	- -
Maestrini, 2009_6	Replication	the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms	294 (19.73%)			ASD	- -	-	180 (20.00%)	- -

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
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Maestrini, 2009	IMGSAC	SNP microarray			ASD	127	127	-	-	-	188	188
Pagnamenta, 2010	IMGSAC	SNP microarray	-	-	ASD	1	-	1	-	-	-	-
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-

Linkage 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
Liu, 2001	USA	microsatellite-based genomic screen			autism, ASD	110	-	110	-	-	-	-

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 2

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hutcheson, 2004_1	USA	PCR, Dhplc and WAVE analysis	30	61 (-)			ASD	>=4 -	- -
MIXED/OTHERS
Liang S, 2014_1	China	ABI 3730	370	370 (-)			autistic	- 3 to 19 years	- -

Case Control Based Association Studies: 0

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
No matched NGS de novo Mutation Studies!

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
Toma C, 2014	-	Illumina HiSeq 2000	-	-	ASD	10	-	-	21	-

Low Scale Gene Studies Top

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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

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 DOCK4

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics