AutismKB 2.0

Evidence Details for SCN7A


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Basic Information Top
Gene Symbol:SCN7A ( SCN6A )
Gene Full Name: sodium channel, voltage-gated, type VII, alpha
Band: 2q24.3
Quick LinksEntrez ID:6332; OMIM: 182392; Uniprot ID:SCN7A_HUMAN; ENSEMBL ID: ENSG00000136546; HGNC ID: 10594
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCN7A|6332|nucleotide
ATGTTGGCTTCACCAGAACCTAAGGGCCTTGTTCCCTTCACTAAAGAGTCTTTTGAACTTATAAAACAGCATATTGCTAAAACACATAATGAAGACCATGAAGAA
GAAGACTTAAAGCCAACTCCTGATTTGGAAGTTGGCAAAAAGCTTCCATTTATTTATGGAAACCTTTCTCAAGGAATGGTGTCAGAGCCCTTGGAAGATGTGGAC
CCATATTACTACAAGAAAAAAAATACTTTCATAGTATTAAATAAAAATAGAACAATCTTCAGATTCAATGCGGCTTCCATCTTGTGTACATTGTCTCCTTTCAAT
TGTATTAGAAGAACAACTATCAAGGTTTTGGTACATCCCTTTTTCCAACTGTTTATTCTAATTAGTGTCCTGATTGATTGCGTATTCATGTCCCTGACTAATTTG
CCAAAATGGAGACCAGTATTAGAGAATACTTTGCTTGGAATTTACACATTTGAAATACTTGTAAAACTCTTTGCAAGAGGTGTCTGGGCAGGATCATTTTCCTTC
CTCGGTGATCCATGGAACTGGCTCGATTTCAGCGTAACTGTGTTTGAGGTTATTATAAGATACTCACCTCTGGACTTCATTCCAACGCTTCAAACTGCAAGAACT
TTGAGAATTTTAAAAATTATTCCTTTAAATCAAGGTCTGAAATCCCTTGTAGGGGTCCTGATCCACTGCTTGAAGCAGCTTATTGGTGTCATTATCCTAACTCTG
TTTTTTCTGAGCATATTTTCTCTAATTGGGATGGGGCTCTTCATGGGCAACTTGAAACATAAATGTTTTCGATGGCCCCAAGAGAATGAAAATGAAACCCTGCAC
AACAGAACTGGAAACCCATATTATATTCGAGAAACAGAAAACTTTTATTATTTGGAAGGAGAAAGATATGCTCTCCTTTGTGGCAACAGGACAGATGCTGGTCAG
TGTCCTGAAGGATATGTGTGTGTAAAAGCTGGCATAAATCCTGATCAAGGCTTCACAAATTTTGACAGTTTTGGCTGGGCCTTATTTGCCCTATTTCGGTTAATG
GCTCAGGATTACCCTGAAGTACTTTATCACCAGATACTTTATGCTTCTGGGAAGGTCTACATGATATTTTTTGTGGTGGTAAGTTTTTTGTTTTCCTTTTATATG
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>SCN7A|6332|protein
MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQGMVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFN
CIRRTTIKVLVHPFFQLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPWNWLDFSVTVFEVIIRYSPLDFIPTLQTART
LRILKIIPLNQGLKSLVGVLIHCLKQLIGVIILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEGERYALLCGNRTDAGQ
CPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYHQILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGK
ELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (3)
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
Morrow, 2008 USA aCGH, SNP microarrayASD 104 79 25 - - - -
Linkage Studies Top