AutismKB 2.0

Evidence Details for TNK2


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Basic Information Top
Gene Symbol:TNK2 ( ACK,ACK1,FLJ44758,FLJ45547,p21cdc42Hs )
Gene Full Name: tyrosine kinase, non-receptor, 2
Band: 3q29
Quick LinksEntrez ID:10188; OMIM: 606994; Uniprot ID:ACK1_HUMAN; ENSEMBL ID: ENSG00000061938; HGNC ID: 19297
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TNK2|10188|nucleotide
ATGCTCGAGGCCCGGCCCCCCAGGACGCAGGGCAGTGACGCTGCCGGTGCCGCTGCGGGGCGGGGGCTGCGGGCGCTGCTTCTCTCCCTGACCGCAGCCGCTGGG
ATTTGGGGCTCCATGGGGGAGAGATCTGCTTACCAGCGCCTGGCTGGGGGCGAGGAGGGACCGCAGAGGCTGGGAGGCGGCAGAATGCAGCCAGAGGAGGGCACA
GGCTGGCTGCTGGAGCTGCTGTCCGAGGTGCAGCTGCAACAGTACTTCCTGCGGCTCCGAGATGACCTCAACGTCACCCGCCTGTCCCACTTTGAGTACGTCAAG
AATGAGGACCTGGAGAAGATCGGCATGGGTCGGCCTGGCCAGCGGCGGCTGTGGGAGGCTGTGAAGAGGAGGAAGGCCTTGTGCAAACGCAAGTCGTGGATGAGT
AAGGTGTTCAGTGGAAAGCGACTGGAGGCTGAGTTCCCACCTCATCACTCTCAGAGCACCTTCCGGAAGACCTCGCCCGCCCCTGGGGGCCCAGCAGGGGAGGGG
CCCCTGCAGAGCCTCACCTGCCTCATTGGGGAGAAGGACCTGCGCCTCCTGGAGAAGCTGGGTGATGGTTCCTTTGGCGTGGTGCGCAGGGGCGAGTGGGACGCG
CCCTCAGGGAAGACGGTGAGTGTGGCTGTGAAGTGCCTGAAGCCCGATGTCCTGAGCCAGCCAGAAGCCATGGACGACTTCATCCGGGAGGTCAATGCCATGCAC
TCGCTCGACCACCGAAACCTCATCCGCCTCTACGGGGTGGTGCTCACGCCGCCCATGAAGATGGTGACAGAGCTGGCACCTCTGGGATCGTTGTTGGACCGGCTA
CGTAAGCACCAGGGCCACTTCCTCCTGGGGACTCTGAGCCGCTACGCTGTGCAGGTGGCTGAGGGCATGGGCTACCTGGAGTCCAAGCGCTTTATTCACCGTGAC
CTGGCTGCCCGCAATCTGCTGTTGGCTACCCGCGACCTGGTCAAGATCGGGGACTTTGGGCTGATGCGAGCACTACCTCAGAATGACGACCATTACGTCATGCAG
GAACATCGCAAGGTGCCCTTCGCCTGGTGTGCCCCCGAGAGCCTGAAGACACGCACCTTCTCCCATGCCAGCGACACCTGGATGTTCGGGGTGACACTGTGGGAA
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>TNK2|10188|protein
MLEARPPRTQGSDAAGAAAGRGLRALLLSLTAAAGIWGSMGERSAYQRLAGGEEGPQRLGGGRMQPEEGTGWLLELLSEVQLQQYFLRLRDDLNVTRLSHFEYVK
NEDLEKIGMGRPGQRRLWEAVKRRKALCKRKSWMSKVFSGKRLEAEFPPHHSQSTFRKTSPAPGGPAGEGPLQSLTCLIGEKDLRLLEKLGDGSFGVVRRGEWDA
PSGKTVSVAVKCLKPDVLSQPEAMDDFIREVNAMHSLDHRNLIRLYGVVLTPPMKMVTELAPLGSLLDRLRKHQGHFLLGTLSRYAVQVAEGMGYLESKRFIHRD
LAARNLLLATRDLVKIGDFGLMRALPQNDDHYVMQEHRKVPFAWCAPESLKTRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKIDKEGERLPRPEDCP
QDIYNVMVQCWAHKPEDRPTFVALRDFLLEAQPTDMRALQDFEEPDKLHIQMNDVITVIEGRAENYWWRGQNTRTLCVGPFPRNVVTSVAGLSAQDISQPLQNSF
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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 (2) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top