AutismKB 2.0

Evidence Details for WNK2


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Basic Information Top
Gene Symbol:WNK2 ( KIAA1760,NY-CO-43,P/OKcl.13,PRKWNK2,SDCCAG43 )
Gene Full Name: WNK lysine deficient protein kinase 2
Band: 9q22.31
Quick LinksEntrez ID:65268; OMIM: 606249; Uniprot ID:WNK2_HUMAN; ENSEMBL ID: ENSG00000165238; HGNC ID: 14542
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WNK2|65268|nucleotide
ATGGACGGCGATGGCGGCCGCCGAGACGTCCCCGGCACGCTGATGGAGCCCGGGCGCGGCGCGGGGCCCGCGGGCATGGCGGAGCCTCGGGCGAAGGCGGCGCGG
CCGGGGCCCCAGCGCTTTCTGCGGCGCAGCGTGGTAGAGTCGGACCAGGAGGAGCCGCCGGGCTTGGAGGCAGCCGAGGCGCCGGGCCCGCAGCCCCCGCAGCCC
CTGCAGCGCCGGGTGCTTCTGCTCTGCAAGACGCGCCGCCTCATCGCGGAGCGCGCCCGCGGACGCCCCGCCGCCCCCGCGCCCGCAGCGCTGGTAGCGCAGCCG
GGAGCCCCCGGAGCCCCCGCGGACGCCGGCCCCGAGCCCGTGGGCACGCAGGAGCCCGGCCCGGACCCCATCGCAGCCGCTGTCGAAACCGCGCCTGCCCCCGAC
GGCGGCCCCAGGGAGGAGGCGGCGGCGACCGTGAGGAAGGAGGATGAGGGGGCGGCCGAGGCGAAGCCTGAGCCCGGGCGCACTCGCCGGGACGAGCCCGAAGAG
GAGGAGGACGACGAGGACGACCTCAAGGCCGTGGCCACCTCTCTGGACGGCCGCTTCCTCAAGTTCGACATCGAGCTGGGCCGCGGTTCCTTCAAGACGGTCTAC
AAGGGGCTGGACACGGAGACCTGGGTGGAGGTGGCCTGGTGTGAGCTGCAGGACCGGAAGCTCACCAAGCTGGAGCGGCAGCGGTTCAAGGAAGAGGCTGAGATG
CTGAAAGGCCTGCAGCACCCCAACATCGTGCGCTTCTACGACTTCTGGGAGTCCAGCGCCAAGGGCAAGCGGTGCATTGTGCTGGTGACGGAGCTGATGACCTCA
GGGACGCTGAAGACATACCTGAAGCGGTTCAAGGTGATGAAGCCCAAGGTTCTCCGCAGCTGGTGCCGGCAGATCCTGAAGGGCCTGCTGTTCCTGCACACAAGG
ACGCCACCCATCATCCACCGAGACCTGAAATGTGACAATATTTTCATCACCGGACCAACTGGGTCTGTGAAGATTGGCGACTTGGGCCTGGCCACTCTGAAAAGA
GCGTCATTTGCCAAAAGTGTGATAGGTACTCCCGAGTTCATGGCGCCCGAGATGTACGAGGAGCACTACGATGAGTCCGTGGACGTCTATGCCTTTGGGATGTGC
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>WNK2|65268|protein
MDGDGGRRDVPGTLMEPGRGAGPAGMAEPRAKAARPGPQRFLRRSVVESDQEEPPGLEAAEAPGPQPPQPLQRRVLLLCKTRRLIAERARGRPAAPAPAALVAQP
GAPGAPADAGPEPVGTQEPGPDPIAAAVETAPAPDGGPREEAAATVRKEDEGAAEAKPEPGRTRRDEPEEEEDDEDDLKAVATSLDGRFLKFDIELGRGSFKTVY
KGLDTETWVEVAWCELQDRKLTKLERQRFKEEAEMLKGLQHPNIVRFYDFWESSAKGKRCIVLVTELMTSGTLKTYLKRFKVMKPKVLRSWCRQILKGLLFLHTR
TPPIIHRDLKCDNIFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEHYDESVDVYAFGMCMLEMATSEYPYSECQNAAQIYRKVTCGIKPASFEK
VHDPEIKEIIGECICKNKEERYEIKDLLSHAFFAEDTGVRVELAEEDHGRKSTIALRLWVEDPKKLKGKPKDNGAIEFTFDLEKETPDEVAQEMIESGFFHESDV
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top