AutismKB 2.0

Evidence Details for DOCK5


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Basic Information Top
Gene Symbol:DOCK5 ( DKFZp451J181,DKFZp779M164,DKFZp781J211 )
Gene Full Name: dedicator of cytokinesis 5
Band: 8p21.2
Quick LinksEntrez ID:80005; OMIM: NA; Uniprot ID:DOCK5_HUMAN; ENSEMBL ID: ENSG00000147459; HGNC ID: 23476
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DOCK5|80005|nucleotide
ATGGCCCGCTGGATCCCGACCAAGAGGCAGAAGTACGGGGTTGCGATCTATAACTACAATGCTTCTCAAGATGTGGAGCTCTCCTTGCAGATCGGTGACACAGTT
CACATCCTGGAGATGTACGAGGGTTGGTACAGAGGATATACCCTCCAAAATAAATCTAAAAAGGGCATTTTCCCTGAAACATATATCCATTTGAAAGAGGCAACT
GTGGAAGACCTGGGGCAGCATGAAACCGTGATTCCTGGCGAGCTCCCCCTGGTGCAGGAGCTCACGTCCACTCTGCGAGAATGGGCTGTCATCTGGCGAAAGCTC
TACGTGAACAACAAGCTCACCCTCTTCCGCCAGCTGCAGCAGATGACGTACAGCCTGATCGAGTGGCGGTCCCAGATCCTGTCTGGGACGCTCCCCAAGGATGAA
CTGGCAGAGCTCAAGAAGAAAGTCACAGCCAAAATTGATCATGGGAACAGAATGCTGGGGTTAGATCTGGTGGTGCGAGATGACAATGGGAACATCCTAGACCCT
GACGAAACCAGCACCATTGCCCTCTTCAAGGCCCATGAGGTGGCCTCCAAAAGGATTGAGGAAAAGATCCAAGAAGAGAAGTCAATCCTGCAGAACCTCGATTTG
CGGGGCCAGTCCATCTTCAGTACCATCCACACCTATGGCCTCTATGTGAACTTCAAGAACTTTGTCTGCAACATCGGGGAAGATGCAGAGTTGTTTATGGCCCTC
TACGACCCAGACCAGTCCACTTTTATCAGTGAGAACTATCTAATTCGTTGGGGCAGTAACGGGATGCCCAAGGAAATAGAGAAGCTCAATAACCTCCAAGCAGTG
TTTACAGACCTTAGCAGCATGGACCTCATCCGGCCCCGCGTCAGCCTTGTGTGCCAGATTGTCCGCGTGGGCCATATGGAGCTGAAGGAAGGCAAGAAGCACACC
TGTGGACTCCGAAGACCTTTTGGAGTGGCAGTGATGGATATTACTGATATCATACATGGGAAGGTGGATGATGAAGAAAAGCAGCATTTTATTCCCTTTCAGCAA
ATTGCGATGGAAACCTACATCCGCCAGAGGCAGCTCATCATGTCGCCTTTGATAACATCACACGTGATTGGGGAGAATGAGCCACTCACTTCAGTCTTGAATAAA
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>DOCK5|80005|protein
MARWIPTKRQKYGVAIYNYNASQDVELSLQIGDTVHILEMYEGWYRGYTLQNKSKKGIFPETYIHLKEATVEDLGQHETVIPGELPLVQELTSTLREWAVIWRKL
YVNNKLTLFRQLQQMTYSLIEWRSQILSGTLPKDELAELKKKVTAKIDHGNRMLGLDLVVRDDNGNILDPDETSTIALFKAHEVASKRIEEKIQEEKSILQNLDL
RGQSIFSTIHTYGLYVNFKNFVCNIGEDAELFMALYDPDQSTFISENYLIRWGSNGMPKEIEKLNNLQAVFTDLSSMDLIRPRVSLVCQIVRVGHMELKEGKKHT
CGLRRPFGVAVMDITDIIHGKVDDEEKQHFIPFQQIAMETYIRQRQLIMSPLITSHVIGENEPLTSVLNKVIAAKEVNHKGQGLWVSLKLLPGDLTQVQKNFSHL
VDRSTAIARKMGFPEIILPGDVRNDIYVTLIHGEFDKGKKKTPKNVEVTMSVHDEEGKLLEKAIHPGAGYEGISEYKSVVYYQVKQPCWYETVKVSIAIEEVTRC
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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 0 (0) 1 (3) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 14 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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