AutismKB

Evidence Detail for PTPN11


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Basic Information Top
Gene Symbol:PTPN11 ( BPTP3,CFC,MGC14433,NS1,PTP-1D,PTP2C,SH-PTP2,SH-PTP3,SHP2 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 11
Band: 12q24
Quick LinksEntrez ID:5781; OMIM: 176876; Uniprot ID:PTN11_HUMAN; ENSEMBL ID: ENSG00000179295
Sequences Top
>PTPN11|5781|nucleotide
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>PTPN11|5781|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMNoonan syndrome 1 (163950)
DescriptionNoonan syndrome (craniofacial anomalies, short stature, heart defects). In a sample of 65 children with Noonan syndrome, 8% had a diagnosis of ASD
Reference(s)8173225; 6662846; 19077116; 8725750;
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.
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
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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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