AutismKB 2.0

Evidence Details for TAOK3


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Basic Information Top
Gene Symbol:TAOK3 ( DKFZp666H245,DPK,FLJ31808,JIK,MAP3K18 )
Gene Full Name: TAO kinase 3
Band: 12q
Quick LinksEntrez ID:51347; OMIM: NA; Uniprot ID:TAOK3_HUMAN; ENSEMBL ID: ENSG00000135090; HGNC ID: 18133
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TAOK3|51347|nucleotide
ATGCGTAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTATTGGTTTGCATGAAATTGGACATGGAAGTTTT
GGAGCAGTTTATTTTGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGAAATGGCAAGATATTCTT
AAGGAAGTTAAATTTTTACGACAATTGAAGCATCCTAATACTATTGAGTACAAAGGCTGTTACTTGAAAGAACACACTGCTTGGTTGGTGATGGAATATTGCTTA
GGCTCAGCCTCTGATTTATTAGAAGTTCATAAAAAACCACTTCAGGAAGTGGAGATCGCTGCCATTACTCATGGAGCCTTGCATGGACTAGCCTACCTACATTCT
CATGCATTGATTCATAGGGATATTAAAGCAGGAAATATTCTTCTAACAGAGCCAGGTCAGGTAAAACTAGCTGATTTTGGATCTGCTTCAATGGCTTCTCCTGCC
AACTCCTTCGTGGGCACACCTTACTGGATGGCTCCAGAGGTGATCTTAGCTATGGATGAAGGACAGTATGATGGGAAAGTTGATATTTGGTCACTTGGCATCACT
TGTATTGAATTGGCGGAACGGAAGCCGCCCCTTTTCAACATGAATGCAATGAGTGCCTTATATCACATTGCCCAGAATGACTCCCCAACGTTACAGTCTAATGAA
TGGACAGACTCCTTTAGGAGATTTGTTGATTACTGCTTGCAGAAAATACCTCAGGAAAGGCCAACATCAGCAGAACTATTAAGGCATGACTTTGTTCGACGAGAC
CGGCCACTACGTGTCCTCATTGACCTCATACAGAGGACAAAAGATGCAGTTCGTGAGCTAGATAACCTACAGTACCGAAAAATGAAAAAAATACTTTTCCAAGAG
ACACGGAATGGACCCTTGAATGAGTCACAGGAGGATGAGGAAGACAGTGAACATGGAACCAGCCTGAACAGGGAAATGGACAGCCTGGGCAGCAACCATTCCATT
CCAAGCATGTCCGTGAGCACAGGCAGCCAGAGCAGCAGTGTGAACAGCATGCAGGAAGTCATGGACGAGAGCAGTTCCGAACTTGTCATGATGCACGATGACGAA
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>TAOK3|51347|protein
MRKGVLKDPEIADLFYKDDPEELFIGLHEIGHGSFGAVYFATNAHTSEVVAIKKMSYSGKQTHEKWQDILKEVKFLRQLKHPNTIEYKGCYLKEHTAWLVMEYCL
GSASDLLEVHKKPLQEVEIAAITHGALHGLAYLHSHALIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDGKVDIWSLGIT
CIELAERKPPLFNMNAMSALYHIAQNDSPTLQSNEWTDSFRRFVDYCLQKIPQERPTSAELLRHDFVRRDRPLRVLIDLIQRTKDAVRELDNLQYRKMKKILFQE
TRNGPLNESQEDEEDSEHGTSLNREMDSLGSNHSIPSMSVSTGSQSSSVNSMQEVMDESSSELVMMHDDESTINSSSSVVHKKDHVFIRDEAGHGDPRPEPRPTQ
SVQSQALHYRNRERFATIKSASLVTRQIHEHEQENELREQMSGYKRMRRQHQKQLIALENKLKAEMDEHRLKLQKEVETHANNSSIELEKLAKKQVAIIEKEAKV
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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 (4) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Asadollahi R, 2014 - CMA--NDDs - - - - 714 2528 3242
Linkage Studies Top