AutismKB

Evidence Detail for PRRT2


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Basic Information Top
Gene Symbol:PRRT2 ( DKFZp547J199,FLJ25513,IFITMD1 )
Gene Full Name: proline-rich transmembrane protein 2
Band: 16p11.2
Quick LinksEntrez ID:112476; OMIM: ; Uniprot ID:PRRT2_HUMAN; ENSEMBL ID: ENSG00000167371
Sequences Top
>PRRT2|112476|nucleotide
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>PRRT2|112476|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) 3 (14) 0 (0) 0 (0) 0 (0) 7 (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%)
0.970864 Down 57.7906
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1724424
  • 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
AutCNV0000012 16 16p11.2 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0000017 16 16p11.2 gain 11 7 Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000018 16 16p11.2 loss 13 5 Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000151 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Denovo CNVs; Marshall, 2008
AutCNV0000152 16 16p11.2 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000185 16 16p11.2 gain 1 - Other; Marshall, 2008
AutCNV0000186 16 16p11.2 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000187 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Other; Denovo CNVs; Marshall, 2008
AutCNV0000193 16 16p11.2 loss 4 0 Overlapping/Recurrent CNVs; Kumar, 2008
AutCNV0000232 16 16p11.2 loss 3 - Overlapping/Recurrent CNVs; Denovo CNVs; Christian, 2008
AutCNV0000233 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Denovo CNVs; Christian, 2008
AutCNV0000260 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Finelli, 2004
AutCNV0000369 16 16p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000370 16 16p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000669 16 16p11.2 loss 1 1 CNVs Only Present In Patients; Shen, 2010
AutCNV0000719 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000794 16 16p11.2 loss 1 - DeNovo Pinto, 2010
AutCNV0000810 16 16p11.2 loss 1 - DeNovo Pinto, 2010
AutCNV0000811 16 16p11.2 loss 1 - DeNovo Pinto, 2010
AutCNV0000812 16 16p11.2 gain 1 - DeNovo Pinto, 2010
AutCNV0003726 16 16p11.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003843 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003844 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003845 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003846 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003847 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003848 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003849 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003850 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003851 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003852 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004335 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004336 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004337 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004338 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004339 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004340 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004341 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004342 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004343 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004344 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004345 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004346 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004347 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004348 16 16p11.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004349 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004350 16 16p11.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004351 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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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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