AutismKB 2.0

Evidence Details for KCNT2


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Basic Information Top
Gene Symbol:KCNT2 ( KCa4.2,MGC119610,MGC119611,MGC119612,MGC119613,SLICK,SLO2.1 )
Gene Full Name: potassium channel, subfamily T, member 2
Band: 1q31.3
Quick LinksEntrez ID:343450; OMIM: 610044; Uniprot ID:KCNT2_HUMAN; ENSEMBL ID: ENSG00000162687; HGNC ID: 18866
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNT2|343450|nucleotide
ATGGTTGATTTGGAGAGCGAAGTGCCCCCTCTGCCTCCCAGGTACAGGTTTCGAGATTTGCTGCTAGGGGACCAAGGATGGCAAAACGACGACAGGGTACAAGTT
GAATTCTATATGAATGAAAATACATTTAAAGAAAGACTAAAATTATTTTTCATAAAAAACCAGAGATCAAGTCTAAGGATACGCCTGTTCAATTTTTCTCTCAAA
TTACTAAGCTGCTTATTATACATAATCCGAGTACTACTAGAAAACCCTTCACAAGGAAATGAATGGTCTCATATCTTTTGGGTGAACAGAAGTCTACCTTTGTGG
GGCTTACAGGTTTCAGTGGCATTGATAAGTCTGTTTGAAACAATATTACTTGGTTATCTTAGTTATAAGGGAAACATCTGGGAACAGATTTTACGAATACCCTTC
ATCTTGGAAATAATTAATGCAGTTCCCTTCATTATCTCAATATTCTGGCCTTCCTTAAGGAATCTATTTGTCCCAGTCTTTCTGAACTGTTGGCTTGCCAAACAT
GCCTTGGAAAATATGATTAATGATCTACACAGAGCCATTCAGCGTACACAGTCTGCAATGTTTAATCAAGTTTTGATTTTAATATCTACATTACTATGCCTTATC
TTCACCTGCATTTGTGGGATCCAACATCTGGAACGAATAGGAAAGAAGCTGAATCTCTTTGACTCCCTTTATTTCTGCATTGTGACGTTTTCTACTGTGGGCTTC
GGGGATGTCACTCCTGAAACATGGTCCTCCAAGCTTTTTGTAGTTGCTATGATTTGTGTTGCTCTTGTGGTTCTACCCATACAGTTTGAACAGCTGGCTTATTTG
TGGATGGAGAGACAAAAGTCAGGAGGAAACTATAGTCGACATAGAGCTCAAACTGAAAAGCATGTCGTCCTGTGTGTCAGCTCACTGAAGATTGATTTACTTATG
GATTTTTTAAATGAATTCTATGCTCATCCTAGGCTCCAGGATTATTATGTGGTGATTTTGTGTCCTACTGAAATGGATGTACAGGTTCGAAGGGTACTGCAGATT
CCAATGTGGTCCCAACGAGTTATCTACCTTCAAGGTTCAGCCCTTAAAGATCAAGACCTATTGAGAGCAAAGATGGATGACGCTGAGGCCTGTTTTATTCTCAGT
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>KCNT2|343450|protein
MVDLESEVPPLPPRYRFRDLLLGDQGWQNDDRVQVEFYMNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLSCLLYIIRVLLENPSQGNEWSHIFWVNRSLPLW
GLQVSVALISLFETILLGYLSYKGNIWEQILRIPFILEIINAVPFIISIFWPSLRNLFVPVFLNCWLAKHALENMINDLHRAIQRTQSAMFNQVLILISTLLCLI
FTCICGIQHLERIGKKLNLFDSLYFCIVTFSTVGFGDVTPETWSSKLFVVAMICVALVVLPIQFEQLAYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLM
DFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPMWSQRVIYLQGSALKDQDLLRAKMDDAEACFILSSRCEVDRTSSDHQTILRAWAVKDFAPNCPLYVQIL
KPENKFHIKFADHVVCEEEFKYAMLALNCICPATSTLITLLVHTSRGQEGQQSPEQWQKMYGRCSGNEVYHIVLEESTFFAEYEGKSFTYASFHAHKKFGVCLIG
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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) 3 (3) 0 (0) 0 (0) 0 (0) 30 (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
Linkage Studies Top