AutismKB 2.0

Evidence Details for SCN4A


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Basic Information Top
Gene Symbol:SCN4A ( HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1 )
Gene Full Name: sodium channel, voltage-gated, type IV, alpha subunit
Band: 17q23.3
Quick LinksEntrez ID:6329; OMIM: 603967; Uniprot ID:SCN4A_HUMAN; ENSEMBL ID: ENSG00000007314; HGNC ID: 10591
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCN4A|6329|nucleotide
ATGGCCAGACCATCTCTGTGCACCCTGGTGCCTCTGGGCCCTGAGTGCTTGCGCCCCTTCACCCGGGAGTCACTGGCAGCCATAGAACAGCGGGCGGTGGAGGAG
GAGGCCCGGCTGCAGCGGAATAAGCAGATGGAGATTGAGGAGCCCGAACGGAAGCCACGAAGTGACTTGGAGGCTGGCAAGAACCTACCCATGATCTACGGAGAC
CCCCCGCCGGAGGTCATCGGCATCCCCCTGGAGGACCTGGATCCCTACTACAGCAATAAGAAGACCTTCATCGTACTCAACAAGGGCAAGGCCATCTTCCGCTTC
TCCGCCACACCTGCTCTCTACCTGCTGAGCCCCTTCAGCGTAGTCAGGCGCGGGGCCATCAAGGTGCTCATCCATGCGCTGTTCAGCATGTTCATCATGATCACC
ATCTTGACCAACTGCGTATTCATGACCATGAGTGACCCGCCTCCCTGGTCCAAGAATGTGGAGTACACCTTCACAGGGATCTACACCTTTGAGTCCCTCATCAAG
ATACTGGCCCGAGGCTTCTGTGTCGACGACTTCACATTCCTCCGGGACCCCTGGAACTGGCTGGACTTCAGTGTCATCATGATGGCGTACCTGACAGAGTTTGTG
GACTTGGGCAACATCTCAGCCCTGAGGACCTTCCGGGTGCTGCGGGCCCTCAAAACCATCACGGTCATCCCAGGGCTGAAGACGATCGTGGGGGCCCTGATCCAG
TCGGTGAAAAAGCTGTCGGATGTGATGATCCTCACTGTCTTCTGCCTGAGCGTCTTTGCGCTGGTAGGACTGCAGCTCTTCATGGGAAACCTGAGGCAGAAGTGT
GTGCGCTGGCCCCCGCCGTTCAACGACACCAACACCACGTGGTACAGCAATGACACGTGGTACGGCAATGACACATGGTATGGCAATGAGATGTGGTACGGCAAT
GACTCATGGTATGCCAACGACACGTGGAACAGCCATGCAAGCTGGGCCACCAACGATACCTTTGATTGGGACGCCTACATCAGTGATGAAGGGAACTTCTACTTC
CTGGAGGGCTCCAACGATGCCCTGCTCTGTGGGAACAGCAGTGATGCTGGGCACTGCCCTGAGGGTTATGAGTGCATCAAGACCGGGCGGAACCCCAACTATGGC
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>SCN4A|6329|protein
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRF
SATPALYLLSPFSVVRRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFV
DLGNISALRTFRVLRALKTITVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGN
DSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQEELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSS
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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 (2) 0 (0) 0 (0) 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 12 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top