AutismKB 2.0

Evidence Details for KCNAB1


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Basic Information Top
Gene Symbol:KCNAB1 ( AKR6A3,KCNA1B,KV-BETA-1,Kvb1.3,hKvBeta3,hKvb3 )
Gene Full Name: potassium voltage-gated channel, shaker-related subfamily, beta member 1
Band: 3q25.31
Quick LinksEntrez ID:7881; OMIM: 601141; Uniprot ID:KCAB1_HUMAN; ENSEMBL ID: ENSG00000169282; HGNC ID: 6228
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNAB1|7881|nucleotide
ATGCATCTGTATAAACCTGCCTGTGCAGACATCCCGAGCCCCAAGCTGGGTCTGCCAAAATCCAGTGAATCGGCTCTAAAATGTAGATGGCACCTAGCAGTGACC
AAGACTCAGCCTCAGGCGGCCTGCAAACCTGTGAGGCCCAGTGGAGCAGCCGAACAGAAATATGTGGAAAAGTTTCTACGTGTTCATGGAATTTCGTTGCAGGAA
ACCACCAGAGCAGAGACGGGCATGGCATACAGGAATCTTGGAAAATCAGGACTCAGAGTTTCTTGCTTGGGTCTTGGAACATGGGTGACATTTGGAGGTCAAATT
TCAGATGAGGTTGCTGAACGGCTGATGACCATCGCCTATGAAAGTGGTGTTAACCTCTTTGATACTGCCGAAGTCTATGCTGCTGGAAAGGCTGAAGTGATTCTG
GGGAGCATCATCAAGAAGAAAGGCTGGAGGAGGTCCAGTCTGGTCATAACAACCAAACTCTACTGGGGTGGAAAAGCTGAAACAGAAAGAGGGCTGTCAAGAAAG
CATATTATTGAAGGATTGAAGGGCTCCCTCCAGAGGCTGCAGCTCGAGTATGTGGATGTGGTCTTTGCAAATCGACCGGACAGTAACACTCCCATGGAAGAAATT
GTCCGAGCCATGACACATGTGATAAACCAAGGCATGGCGATGTACTGGGGCACCTCGAGATGGAGTGCTATGGAGATCATGGAAGCCTATTCTGTAGCAAGACAG
TTCAATATGATCCCACCGGTCTGTGAACAAGCTGAGTACCATCTTTTCCAGAGAGAGAAAGTGGAGGTCCAGCTGCCAGAGCTCTACCACAAAATAGGTGTTGGC
GCAATGACATGGTCTCCACTTGCCTGTGGAATCATCTCAGGAAAATACGGAAACGGGGTGCCTGAAAGTTCCAGGGCTTCACTGAAGTGCTACCAGTGGTTGAAA
GAAAGAATTGTAAGTGAAGAAGGGAGAAAACAGCAAAACAAGCTAAAAGACCTTTCCCCAATTGCGGAGCGTCTGGGATGCACACTACCTCAGCTAGCTGTTGCG
TGGTGCCTGAGAAATGAAGGTGTGAGTTCTGTGCTCCTGGGATCATCCACTCCTGAACAACTCATTGAAAACCTTGGTGCCATTCAGGTTCTCCCAAAGATGACA
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>KCNAB1|7881|protein
MHLYKPACADIPSPKLGLPKSSESALKCRWHLAVTKTQPQAACKPVRPSGAAEQKYVEKFLRVHGISLQETTRAETGMAYRNLGKSGLRVSCLGLGTWVTFGGQI
SDEVAERLMTIAYESGVNLFDTAEVYAAGKAEVILGSIIKKKGWRRSSLVITTKLYWGGKAETERGLSRKHIIEGLKGSLQRLQLEYVDVVFANRPDSNTPMEEI
VRAMTHVINQGMAMYWGTSRWSAMEIMEAYSVARQFNMIPPVCEQAEYHLFQREKVEVQLPELYHKIGVGAMTWSPLACGIISGKYGNGVPESSRASLKCYQWLK
ERIVSEEGRKQQNKLKDLSPIAERLGCTLPQLAVAWCLRNEGVSSVLLGSSTPEQLIENLGAIQVLPKMTSHVVNEIDNILRNKPYSKKDYRS

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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top