AutismKB 2.0

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 LinksEntrez ID:9732; OMIM: 607679; Uniprot ID:DOCK4_HUMAN; ENSEMBL ID: ENSG00000128512; HGNC ID: 19192
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>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

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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
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
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
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
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
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Maestrini, 2009 IMGSAC SNP microarrayASD 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