AutismKB 2.0

Evidence Details for SCNN1B


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Basic Information Top
Gene Symbol:SCNN1B ( BESC1,ENaCb,ENaCbeta,SCNEB )
Gene Full Name: sodium channel, nonvoltage-gated 1, beta
Band: 16p12.2-p12.1
Quick LinksEntrez ID:6338; OMIM: 600760; Uniprot ID:SCNNB_HUMAN; ENSEMBL ID: ENSG00000168447; HGNC ID: 10600
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCNN1B|6338|nucleotide
ATGCACGTGAAGAAGTACCTGCTGAAGGGCCTGCATCGGCTGCAGAAGGGCCCCGGCTACACGTACAAGGAGCTGCTGGTGTGGTACTGCGACAACACCAACACC
CACGGCCCCAAGCGCATCATCTGTGAGGGGCCCAAGAAGAAAGCCATGTGGTTCCTGCTCACCCTGCTCTTCGCCGCCCTCGTCTGCTGGCAGTGGGGCATCTTC
ATCAGGACCTACTTGAGCTGGGAGGTCAGCGTCTCCCTCTCCGTAGGCTTCAAGACCATGGACTTCCCTGCCGTCACCATCTGCAATGCTAGCCCCTTCAAGTAT
TCCAAAATCAAGCATTTGCTGAAGGACCTGGATGAGCTGATGGAAGCTGTCCTGGAGAGAATCCTGGCTCCTGAGCTAAGCCATGCCAATGCCACCAGGAACCTG
AACTTCTCCATCTGGAACCACACACCCCTGGTCCTTATTGATGAACGGAACCCCCACCACCCCATGGTCCTTGATCTCTTTGGAGACAACCACAATGGCTTAACA
AGCAGCTCAGCATCAGAAAAGATCTGTAATGCCCACGGGTGCAAAATGGCCATGAGACTATGTAGCCTCAACAGGACCCAGTGTACCTTCCGGAACTTCACCAGT
GCTACCCAGGCATTGACAGAGTGGTACATCCTGCAGGCCACCAACATCTTTGCACAGGTGCCACAGCAGGAGCTAGTAGAGATGAGCTACCCCGGCGAGCAGATG
ATCCTGGCCTGCCTATTCGGAGCTGAGCCCTGCAACTACCGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACA
GAGAAGGCACTTCCTTCGGCCAACCCTGGAACTGAATTCGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGG
GTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGACAAG
CTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCCCCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGCC
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>SCNN1B|6338|protein
MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFAALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKY
SKIKHLLKDLDELMEAVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTS
ATQALTEWYILQATNIFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILDIGQEDYVPFLASTAG
VRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSPCTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF
PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERDQSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQ
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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 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Okamoto N, 2014 Japanese ---autism - - - - 2 - 2
Linkage Studies Top