AutismKB 2.0

Evidence Details for DOCK2


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Basic Information Top
Gene Symbol:DOCK2 ( FLJ46592,KIAA0209 )
Gene Full Name: dedicator of cytokinesis 2
Band: 5q35.1
Quick LinksEntrez ID:1794; OMIM: 603122; Uniprot ID:DOCK2_HUMAN; ENSEMBL ID: ENSG00000134516; HGNC ID: 2988
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DOCK2|1794|nucleotide
ATGGCCCCCTGGCGCAAAGCTGACAAGGAGCGGCACGGCGTGGCCATATACAACTTCCAAGGCAGCGGAGCCCCCCAGCTCTCCCTGCAGATCGGCGATGTGGTG
CGAATACAGGAGACGTGTGGAGACTGGTATAGGGGATACCTCATAAAGCACAAAATGTTACAGGGCATTTTTCCTAAGTCATTTATCCACATCAAGGAAGTGACA
GTTGAGAAAAGAAGAAATACTGAGAACATCATTCCTGCAGAAATTCCTCTGGCACAAGAAGTGACAACGACACTTTGGGAATGGGGAAGCATCTGGAAACAACTC
TATGTGGCCAGCAAAAAGGAGCGTTTTCTCCAGGTGCAGTCCATGATGTACGATCTGATGGAGTGGAGGTCCCAGCTTCTCTCAGGAACCTTACCCAAGGATGAG
CTGAAGGAACTGAAGCAGAAAGTCACGTCCAAAATTGACTATGGCAACAAAATCCTTGAGCTTGATTTGATTGTCAGAGATGAAGACGGAAATATCTTGGACCCT
GATAATACCAGTGTCATCAGCTTGTTCCATGCACATGAGGAAGCAACTGATAAAATCACAGAGCGTATCAAAGAAGAAATGTCAAAAGACCAGCCAGATTATGCA
ATGTATTCCCGGATCTCCTCATCCCCCACCCATAGCCTCTATGTGTTTGTGAGAAACTTTGTGTGCAGAATTGGGGAAGATGCTGAGCTCTTCATGTCTCTCTAC
GACCCCAACAAGCAAACGGTCATAAGTGAGAACTACCTAGTGCGATGGGGCAGCCGGGGCTTCCCTAAGGAGATTGAGATGCTCAACAATCTGAAGGTGGTCTTC
ACGGATCTTGGAAACAAAGACCTCAACAGGGATAAAATTTACTTGATTTGTCAAATAGTCCGGGTCGGCAAGATGGATCTTAAGGATACTGGTGCAAAGAAGTGC
ACGCAGGGACTGAGGAGGCCCTTTGGGGTGGCAGTTATGGATATAACAGACATCATCAAGGGGAAAGCAGAGAGTGATGAAGAAAAGCAGCACTTCATTCCTTTT
CACCCGGTTACAGCTGAGAATGACTTCCTACACAGCCTGCTGGGCAAAGTCATAGCCTCCAAGGGGGACAGTGGAGGGCAAGGCCTCTGGGTGACCATGAAGATG
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>DOCK2|1794|protein
MAPWRKADKERHGVAIYNFQGSGAPQLSLQIGDVVRIQETCGDWYRGYLIKHKMLQGIFPKSFIHIKEVTVEKRRNTENIIPAEIPLAQEVTTTLWEWGSIWKQL
YVASKKERFLQVQSMMYDLMEWRSQLLSGTLPKDELKELKQKVTSKIDYGNKILELDLIVRDEDGNILDPDNTSVISLFHAHEEATDKITERIKEEMSKDQPDYA
MYSRISSSPTHSLYVFVRNFVCRIGEDAELFMSLYDPNKQTVISENYLVRWGSRGFPKEIEMLNNLKVVFTDLGNKDLNRDKIYLICQIVRVGKMDLKDTGAKKC
TQGLRRPFGVAVMDITDIIKGKAESDEEKQHFIPFHPVTAENDFLHSLLGKVIASKGDSGGQGLWVTMKMLVGDIIQIRKDYPHLVDRTTVVARKLGFPEIIMPG
DVRNDIYITLLQGDFDKYNKTTQRNVEVIMCVCAEDGKTLPNAICVGAGDKPMNEYRSVVYYQVKQPRWMETVKVAVPIEDMQRIHLRFMFRHRSSLESKDKGEK
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
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