AutismKB

Evidence Detail for MAPK1


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Basic Information Top
Gene Symbol:MAPK1 ( ERK,ERK2,ERT1,MAPK2,P42MAPK,PRKM1,PRKM2,p38,p40,p41,p41mapk )
Gene Full Name: mitogen-activated protein kinase 1
Band: 22q11.2|22q11.21
Quick LinksEntrez ID:5594; OMIM: 176948; Uniprot ID:MK01_HUMAN; ENSEMBL ID: ENSG00000100030
Sequences Top
>MAPK1|5594|nucleotide
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>MAPK1|5594|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) 0 (0) 2 (6) 1 (1) 0 (0) 2 (2) 19 (3)
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
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Zou, 2011_2 mouse brain--- mouse model
  • Subjects: BTBR mouse
  • Normal Controls: B6 mouse
  • Methods: western blot, Immunohitochemistry, Enzyme-linked immunosorbent assay
  • Evidence Details: We detected that the activities of both MEK1/2 and ERK1/2, which are the downstream kinases of Ras/Raf signaling, were significantly echanced in the frontal cortex, imply that Ras/Raf/ERK1/2 signaling activities could be increased in autistic brain and involved in the pathogenesis of autism
Yang, 2011_1 human brainAutism Signaling activities
  • Subjects: 6
  • Normal Controls: 6
  • Methods: "Western blot, Immunohisochemistry"
  • Evidence Details: These results suggest that the upregulation of Ras/Raf/ERK1/2 sig-naling and ERK6 activities mainly found in the frontal cortex of autistic subjects may be critically involved in the pathogenesis of autism
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000158 22 22q11.21 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; Denovo CNVs; Marshall, 2008
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0000723 22 22q11.21-q11.22 loss 1 - Overlapping/Recurrent CNVs; Denovo CNVs; Bremer, 2011
AutCNV0004392 22 22q11.21-q11.22 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000028 22q11.21 22 D22S264 1.3 - - Bailey, 1998

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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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