AutismKB

Evidence Detail for CDK5R1


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Basic Information Top
Gene Symbol:CDK5R1 ( CDK5P35,CDK5R,MGC33831,NCK5A,p23,p25,p35,p35nck5a )
Gene Full Name: cyclin-dependent kinase 5, regulatory subunit 1 (p35)
Band: 17q11.2
Quick LinksEntrez ID:8851; OMIM: 603460; Uniprot ID:CD5R1_HUMAN; ENSEMBL ID: ENSG00000176749
Sequences Top
>CDK5R1|8851|nucleotide
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>CDK5R1|8851|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) No 0 (0) 1 (1) 0 (0) 2 (6) 0 (0) 0 (0) 3 (7)
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
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.661 Up 0.0375
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 204995_at
  • RefSeq_ID/ EST: AL567411
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000008 17q11.2 17 D17S1294 2.85 - - McCauley, 2005
AutLD0000016 17q11.2 17 D17S1800 2.83 - - Yonan, 2003
AutLD0000039 17q11.2 17 HTTINT2 2.34 - - Monaco, 2001
AutLD0000108 17q11.2 17 D17S1294 - 2.39 - Ylisaukko-oja, 2006
AutLD0000118 17q11.2 17 - - 2.1 - Spence, 2006
AutLD0000148 17q11.2 17 D17S1800 5.82 4.88 0.000000159 Sutcliffe, 2005

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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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