AutismKB

Evidence Detail for SCNN1D


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Basic Information Top
Gene Symbol:SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh )
Gene Full Name: sodium channel, nonvoltage-gated 1, delta
Band: 1p36.3-p36.2
Quick LinksEntrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572
Sequences Top
>SCNN1D|6339|nucleotide
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>SCNN1D|6339|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 1 (5) 0 (0) 0 (0) 0 (0) 3 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.09737 Up 28.6057
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1754757
  • 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 Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000126 1 1p36 loss 1 - Denovo CNVs; Jacquemont, 2006
AutCNV0000346 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000347 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000441 1 1p36.32-36.33 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000442 1 1p36.32-36.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000443 1 1p36.32-36.33 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0003119 1 1p36.32-36.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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