AutismKB 2.0

Evidence Details for KCNQ3


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Basic Information Top
Gene Symbol:KCNQ3 ( BFNC2,EBN2,KV7.3 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 3
Band: 8q24.22
Quick LinksEntrez ID:3786; OMIM: 602232; Uniprot ID:KCNQ3_HUMAN; ENSEMBL ID: ENSG00000184156; HGNC ID: 6297
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNQ3|3786|nucleotide
ATGGGGCTCAAGGCGCGCAGGGCGGCGGGGGCGGCTGGCGGCGGCGGCGACGGGGGCGGCGGAGGCGGCGGGGCGGCTAACCCAGCCGGAGGGGACGCGGCGGCG
GCCGGCGACGAGGAGCGGAAAGTGGGGCTGGCGCCCGGCGACGTGGAGCAAGTCACCTTGGCGCTCGGGGCCGGAGCCGACAAAGACGGGACCCTGCTGCTGGAG
GGCGGCGGCCGCGACGAGGGGCAGCGGAGGACCCCGCAGGGCATCGGGCTCCTGGCCAAGACCCCGCTGAGCCGCCCAGTCAAGAGAAACAACGCCAAGTACCGG
CGCATCCAAACTTTGATCTACGACGCCCTGGAGAGACCGCGGGGCTGGGCGCTGCTTTACCACGCGTTGGTGTTCCTGATTGTCCTGGGGTGCTTGATTCTGGCT
GTCCTGACCACATTCAAGGAGTATGAGACTGTCTCGGGAGACTGGCTTCTGTTACTGGAGACATTTGCTATTTTCATCTTTGGAGCCGAGTTTGCTTTGAGGATC
TGGGCTGCTGGATGTTGCTGCCGATACAAAGGCTGGCGGGGCCGACTGAAGTTTGCCAGGAAGCCCCTGTGCATGTTGGACATCTTTGTGCTGATTGCCTCTGTG
CCAGTGGTTGCTGTGGGAAACCAAGGCAATGTTCTGGCCACCTCCCTGCGAAGCCTGCGCTTCCTGCAGATCCTGCGCATGCTGCGGATGGACCGGAGAGGTGGC
ACCTGGAAGCTTCTGGGCTCAGCCATCTGTGCCCACAGCAAAGAACTCATCACGGCCTGGTACATCGGTTTCCTGACACTCATCCTTTCTTCATTTCTTGTCTAC
CTGGTTGAGAAAGACGTCCCAGAGGTGGATGCACAAGGAGAGGAGATGAAAGAGGAGTTTGAGACCTATGCAGATGCCCTGTGGTGGGGCCTGATCACACTGGCC
ACCATTGGCTATGGAGACAAGACACCCAAAACGTGGGAAGGCCGTCTGATTGCCGCCACCTTTTCCTTAATTGGCGTCTCCTTTTTTGCCCTTCCAGCGGGCATC
CTGGGGTCCGGGCTGGCCCTCAAGGTGCAGGAGCAACACCGTCAGAAGCACTTTGAGAAAAGGAGGAAGCCAGCTGCTGAGCTCATTCAGGCTGCCTGGAGGTAT
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>KCNQ3|3786|protein
MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYR
RIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASV
PVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLA
TIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAAS
SQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRIL
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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) 1 (2) 0 (0) 0 (1) 1 (1) 20 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top