AutismKB

Evidence Detail for DCTN5


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Basic Information Top
Gene Symbol:DCTN5 ( MGC3248,p25 )
Gene Full Name: dynactin 5 (p25)
Band: 16p12.2
Quick LinksEntrez ID:84516; OMIM: 612962; Uniprot ID:DCTN5_HUMAN; ENSEMBL ID: ENSG00000166847
Sequences Top
>DCTN5|84516|nucleotide
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>DCTN5|84516|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) 0 (0) 0 (0) 0 (1) 1 (1) 8 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
O'Roak, 2011_1 human whole-bloodautism genetics: mutation screen
  • Subjects: 19 SSCs and 1 SAGE
  • Normal Controls: 20
  • Methods: whole genome exome sequencing by Illumina Genome Analyzer Iix with single or paired-end 76-bp reads
  • Evidence Details: De novo 3'UTR mutaion event was found in hg18 Chr16:23,585,994
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%)
1.622 Up 0.0182
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 209231_s_at
  • RefSeq_ID/ EST: AI038068
  • 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

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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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