AutismKB 2.0

Evidence Details for SCN1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SCN1A ( FEB3,FEB3A,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI )
Gene Full Name: sodium channel, voltage-gated, type I, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6323; OMIM: 182389; Uniprot ID:SCN1A_HUMAN; ENSEMBL ID: ENSG00000144285; HGNC ID: 10585
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCN1A|6323|nucleotide
ATGGAGCAAACAGTGCTTGTACCACCAGGACCTGACAGCTTCAACTTCTTCACCAGAGAATCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGGCAAAG
AATCCCAAACCAGACAAAAAAGATGACGACGAAAATGGCCCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAACCTTCCATTTATTTATGGAGACATTCCTCCA
GAGATGGTGTCAGAGCCCCTGGAGGACCTGGACCCCTACTATATCAATAAGAAAACTTTTATAGTATTGAATAAAGGGAAGGCCATCTTCCGGTTCAGTGCCACC
TCTGCCCTGTACATTTTAACTCCCTTCAATCCTCTTAGGAAAATAGCTATTAAGATTTTGGTACATTCATTATTCAGCATGCTAATTATGTGCACTATTTTGACA
AACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAAAGAATGTAGAATACACCTTCACAGGAATATATACTTTTGAATCACTTATAAAAATTATTGCA
AGGGGATTCTGTTTAGAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTTGCGTACGTCACAGAGTTTGTGGACCTGGGC
AATGTCTCGGCATTGAGAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCATTCCAGGCCTGAAAACCATTGTGGGAGCCCTGATCCAGTCTGTGAAG
AAGCTCTCAGATGTAATGATCCTGACTGTGTTCTGTCTGAGCGTATTTGCTCTAATTGGGCTGCAGCTGTTCATGGGCAACCTGAGGAATAAATGTATACAATGG
CCTCCCACCAATGCTTCCTTGGAGGAACATAGTATAGAAAAGAATATAACTGTGAATTATAATGGTACACTTATAAATGAAACTGTCTTTGAGTTTGACTGGAAG
TCATATATTCAAGATTCAAGATATCATTATTTCCTGGAGGGTTTTTTAGATGCACTACTATGTGGAAATAGCTCTGATGCAGGCCAATGTCCAGAGGGATATATG
TGTGTGAAAGCTGGTAGAAATCCCAATTATGGCTACACAAGCTTTGATACCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACTCAGGACTTCTGGGAA
Show »

>SCN1A|6323|protein
MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSAT
SALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLG
NVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWK
SYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSES
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 0 (4) 0 (0) 1 (3) 1 (1) 20 (10)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMDravet syndrome (607208)
DescriptionSevere myoclonic epilepsy of infancy (Dravet syndrome); ASD or autistic features have been reported repeatedly
Reference(s)16893627; -; 16122630; 16122630; 17030758; 19400878; 19764027; 21620773;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)		 ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)		 Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)		---autism 6
(33.33%)		 -1.23807 Down 0.00323535
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 1555246_a_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 0.863716 Down 26.4019
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1741059
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)		 ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2011 - 20 21 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, 2012 2446 - 46 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Li J, 2014 - Illumina HiSeq 2000ASD - - - 25 -
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Alvarez-Mora MI, 2016 - Illumina MiSeqASD - - - 44 Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved