AutismKB

Evidence Detail for PTPRT


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Basic Information Top
Gene Symbol:PTPRT ( KIAA0283,RPTPrho )
Gene Full Name: protein tyrosine phosphatase, receptor type, T
Band: 20q12-q13
Quick LinksEntrez ID:11122; OMIM: 608712; Uniprot ID:PTPRT_HUMAN; ENSEMBL ID: ENSG00000196090
Sequences Top
>PTPRT|11122|nucleotide
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>PTPRT|11122|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 (1) 1 (1) 1 (4) 1 (1) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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%)
0.736688 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2404256
  • 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
AutCNV0000242 20 20q12 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0001365 20 20q12 loss 1 - maternal Pinto, 2010
AutCNV0002190 20 20q12 loss 1 - paternal Pinto, 2010
AutCNV0002191 20 20q12 loss 1 - paternal Pinto, 2010
AutCNV0002192 20 20q12 loss 1 - paternal Pinto, 2010
AutCNV0002193 20 20q12 loss 1 - paternal Pinto, 2010
AutCNV0002194 20 20q12 loss 1 - paternal Pinto, 2010
AutCNV0002991 20 20q12 loss 1 - maternal Pinto, 2010
AutCNV0003765 20 20q12 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003766 20 20q12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003767 20 20q12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003768 20 20q12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003769 20 20q12-13.11 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004379 20 20q12 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004380 20 20q12 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000147 20q11.21-13.12 20 - - 5.56 - Allen-Brady, 2008

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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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