AutismKB 2.0

Evidence Details for DOK2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DOK2 ( p56DOK,p56dok-2 )
Gene Full Name: docking protein 2, 56kDa
Band: 8p21.3
Quick LinksEntrez ID:9046; OMIM: 604997; Uniprot ID:DOK2_HUMAN; ENSEMBL ID: ENSG00000147443; HGNC ID: 2991
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DOK2|9046|nucleotide
ATGGGAGACGGGGCAGTGAAACAAGGCTTCTTGTATCTTCAGCAGCAGCAGACGTTTGGAAAGAAATGGCGCCGCTTCGGCGCCTCACTGTATGGAGGGTCGGAC
TGCGCCTTGGCCCGGCTGGAGCTGCAGGAGGGCCCGGAGAAGCCTCGTCGGTGTGAGGCTGCCCGGAAGGTCATCCGCCTCAGTGACTGCCTGCGGGTGGCCGAG
GCCGGCGGAGAGGCCAGCAGCCCCCGGGACACCAGTGCCTTCTTCCTGGAGACCAAGGAGCGCCTGTACCTCCTGGCGGCCCCTGCAGCGGAGCGCGGCGACTGG
GTGCAGGCCATCTGCCTCCTGGCCTTCCCCGGGCAGAGGAAGGAGCTCTCGGGGCCAGAGGGAAAGCAGAGCCGGCCCTGCATGGAGGAAAATGAATTGTACAGC
AGCGCAGTCACAGTCGGCCCCCACAAGGAATTTGCTGTGACCATGAGACCTACAGAAGCCAGTGAGAGGTGCCACCTGCGGGGGTCCTATACCCTCCGGGCTGGG
GAGAGTGCCCTGGAGCTGTGGGGTGGGCCCGAGCCAGGGACCCAGCTGTACGACTGGCCCTACAGGTTTCTGCGGCGCTTTGGGCGGGACAAGGTAACCTTTTCC
TTTGAGGCAGGCCGTCGCTGCGTCTCTGGAGAGGGCAACTTTGAGTTCGAAACCCGGCAAGGCAATGAGATCTTCTTGGCCCTGGAAGAGGCCATCTCTGCCCAG
AAGAATGCTGCACCCGCTACACCCCAACCGCAGCCAGCCACAATCCCCGCGTCGCTGCCCCGGCCTGATAGCCCCTACTCTCGGCCGCATGACTCACTGCCGCCG
CCTTCACCCACCACACCGGTGCCTGCTCCACGGCCTCGGGGCCAGGAGGGGGAGTATGCCGTGCCCTTCGATGCGGTGGCCCGTTCCTTGGGGAAGAACTTCAGG
GGCATCTTGGCAGTCCCTCCTCAGCTCCTGGCCGACCCTCTGTACGACAGCATTGAGGAGACCCTGCCCCCTCGACCTGACCACATATACGATGAGCCCGAGGGA
GTGGCTGCCCTGTCCCTCTATGACAGCCCGCAGGAGCCCCGGGGTGAGGCATGGAGGAGGCAGGCGACAGCTGACAGGGACCCTGCTGGCCTCCAGCATGTCCAG
Show »

>DOK2|9046|protein
MGDGAVKQGFLYLQQQQTFGKKWRRFGASLYGGSDCALARLELQEGPEKPRRCEAARKVIRLSDCLRVAEAGGEASSPRDTSAFFLETKERLYLLAAPAAERGDW
VQAICLLAFPGQRKELSGPEGKQSRPCMEENELYSSAVTVGPHKEFAVTMRPTEASERCHLRGSYTLRAGESALELWGGPEPGTQLYDWPYRFLRRFGRDKVTFS
FEAGRRCVSGEGNFEFETRQGNEIFLALEEAISAQKNAAPATPQPQPATIPASLPRPDSPYSRPHDSLPPPSPTTPVPAPRPRGQEGEYAVPFDAVARSLGKNFR
GILAVPPQLLADPLYDSIEETLPPRPDHIYDEPEGVAALSLYDSPQEPRGEAWRRQATADRDPAGLQHVQPAGQDFSASGWQPGTEYDNVVLKKGPK

Show »

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 0 (0) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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