AutismKB 2.0

Evidence Details for CNKSR2


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Basic Information Top
Gene Symbol:CNKSR2 ( CNK2,KIAA0902,KSR2,MAGUIN )
Gene Full Name: connector enhancer of kinase suppressor of Ras 2
Band: Xp22.12
Quick LinksEntrez ID:22866; OMIM: 300724; Uniprot ID:CNKR2_HUMAN; ENSEMBL ID: ENSG00000149970; HGNC ID: 19701
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNKSR2|22866|nucleotide
ATGGCTCTGATAATGGAACCGGTGAGCAAATGGTCTCCGAGTCAAGTAGTGGACTGGATGAAAGGTCTTGATGACTGTTTGCAGCAGTATATTAAGAACTTTGAG
AGGGAGAAGATCAGTGGGGACCAGCTGCTGCGCATTACACATCAGGAGCTAGAAGATCTGGGGGTCAGCCGCATTGGCCATCAGGAACTGATCTTGGAAGCAGTT
GACCTTCTGTGTGCATTGAATTATGGCTTGGAAACAGAAAATCTAAAAACCCTTTCTCACAAGTTGAATGCATCTGCCAAAAATCTGCAGAATTTTATAACAGGA
AGGAGAAGGAGTGGCCATTATGATGGGAGGACCAGCCGAAAATTGCCAAACGACTTTCTGACCTCAGTTGTGGATCTGATTGGAGCAGCCAAGAGTCTGCTTGCC
TGGTTGGACAGGTCACCATTTGCTGCTGTGACAGACTATTCAGTTACAAGAAATAATGTCATACAACTCTGCCTGGAGTTAACAACAATTGTGCAACAGGATTGT
ACTGTATATGAAACAGAGAATAAAATTCTTCACGTGTGTAAAACTCTTTCTGGAGTCTGTGACCACATCATATCCCTGTCGTCAGATCCTCTGGTTTCACAGTCT
GCTCACCTGGAAGTGATTCAACTGGCAAACATTAAACCAAGCGAAGGGCTGGGTATGTATATTAAATCTACATATGATGGCCTCCATGTAATTACTGGAACCACA
GAAAATTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTGGGGTGGCAGTTGAAAAATTTGGTGAAT
GCACTACGAGAGGACCCGAGTGGTGTTATCTTAACTTTGAAAAAGCGACCTCAGAGCATGCTTACCTCAGCACCAGCTTTACTGAAAAATATGAGATGGAAGCCC
CTTGCTCTGCAGCCTCTTATACCTAGAAGTCCCACAAGCAGCGTTGCCACGCCTTCCAGCACCATCAGTACACCCACCAAAAGAGACAGTTCTGCCCTCCAGGAT
CTCTACATTCCCCCTCCTCCTGCAGAACCATATATTCCCAGGGATGAAAAAGGAAACCTTCCTTGTGAAGACCTCAGAGGACATATGGTGGGCAAGCCAGTGCAT
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>CNKSR2|22866|protein
MALIMEPVSKWSPSQVVDWMKGLDDCLQQYIKNFEREKISGDQLLRITHQELEDLGVSRIGHQELILEAVDLLCALNYGLETENLKTLSHKLNASAKNLQNFITG
RRRSGHYDGRTSRKLPNDFLTSVVDLIGAAKSLLAWLDRSPFAAVTDYSVTRNNVIQLCLELTTIVQQDCTVYETENKILHVCKTLSGVCDHIISLSSDPLVSQS
AHLEVIQLANIKPSEGLGMYIKSTYDGLHVITGTTENSPADRCKKIHAGDEVIQVNHQTVVGWQLKNLVNALREDPSGVILTLKKRPQSMLTSAPALLKNMRWKP
LALQPLIPRSPTSSVATPSSTISTPTKRDSSALQDLYIPPPPAEPYIPRDEKGNLPCEDLRGHMVGKPVHKGSESPNSFLDQEYRKRFNIVEEDTVLYCYEYEKG
RSSSQGRRESTPTYENSLLRYMSNEKIAQEEYMFQRNSKKDTGKKSKKKGDKSNSPTHYSLLPSLQMDALRQDIMGTPVPETTLYHTFQQSSLQHKSKKKNKGPI
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (5)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top