AutismKB

Evidence Detail for SLC16A3


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Basic Information Top
Gene Symbol:SLC16A3 ( MCT3,MCT4,MGC138472,MGC138474 )
Gene Full Name: solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
Band: 17q25
Quick LinksEntrez ID:9123; OMIM: 603877; Uniprot ID:MOT4_HUMAN; ENSEMBL ID: ENSG00000141526
Sequences Top
>SLC16A3|9123|nucleotide
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>SLC16A3|9123|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) 3 (3) 1 (3) 1 (1) 0 (0) 0 (0) 6 (4)
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: 3
Reference Population 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%)
1.04743 Up 0.0096006
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 202856_s_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%)
1.48703 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2364022
  • 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.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
2.00782 Up 0.0183098
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2364022
  • 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
AutCNV0000641 17 17q25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000642 17 17q25.3 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000643 17 17q25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000807 17 17q25.3 loss 1 - DeNovo Pinto, 2010
AutCNV0000808 17 17q25.3 gain 1 - DeNovo Pinto, 2010
AutCNV0004363 17 17q25.3 gain 1 - DeNovo Sanders, 2011
AutCNV0004364 17 17q25.3 loss 1 - DeNovo Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000044 17q25.3 17 D17S784 1.67 - - Auranen, 2002

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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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