AutismKB 2.0

Evidence Details for KCNQ2


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Basic Information Top
Gene Symbol:KCNQ2 ( BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 2
Band: 20q13.33
Quick LinksEntrez ID:3785; OMIM: 602235; Uniprot ID:KCNQ2_HUMAN; ENSEMBL ID: ENSG00000075043; HGNC ID: 6296
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNQ2|3785|nucleotide
ATGGTGCAGAAGTCGCGCAACGGCGGCGTATACCCCGGCCCGAGCGGGGAGAAGAAGCTGAAGGTGGGCTTCGTGGGGCTGGACCCCGGCGCGCCCGACTCCACC
CGGGACGGGGCGCTGCTGATCGCCGGCTCCGAGGCCCCCAAGCGCGGCAGCATCCTCAGCAAACCTCGCGCGGGCGGCGCGGGCGCCGGGAAGCCCCCCAAGCGC
AACGCCTTCTACCGCAAGCTGCAGAATTTCCTCTACAACGTGCTGGAGCGGCCGCGCGGCTGGGCGTTCATCTACCACGCCTACGTGTTCCTCCTGGTTTTCTCC
TGCCTCGTGCTGTCTGTGTTTTCCACCATCAAGGAGTATGAGAAGAGCTCGGAGGGGGCCCTCTACATCCTGGAAATCGTGACTATCGTGGTGTTTGGCGTGGAG
TACTTCGTGCGGATCTGGGCCGCAGGCTGCTGCTGCCGGTACCGTGGCTGGAGGGGGCGGCTCAAGTTTGCCCGGAAACCGTTCTGTGTGATTGACATCATGGTG
CTCATCGCCTCCATTGCGGTGCTGGCCGCCGGCTCCCAGGGCAACGTCTTTGCCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGC
ATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGGCTCTGTGGTCTATGCCCACAGCAAGGAGCTGGTCACTGCCTGGTACATCGGCTTCCTTTGTCTCATCCTG
GCCTCGTTCCTGGTGTACTTGGCAGAGAAGGGGGAGAACGACCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGATCACGCTGACCACCATTGGCTAC
GGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCTTGCGGCAACCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGGCATCTTGGGGTCTGGG
TTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGTCGGCCTGGAGATTCTACGCCACCAAC
CTCTCGCGCACAGACCTGCACTCCACGTGGCAGTACTACGAGCGAACGGTCACCGTGCCCATGTACAGACTTATCCCCCCGCTGAACCAGCTGGAGCTGCTGAGG
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>KCNQ2|3785|protein
MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFS
CLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIR
MDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSG
FALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPR
GVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKR
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top