AutismKB

Evidence Detail for TUBGCP5


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Basic Information Top
Gene Symbol:TUBGCP5 ( GCP5,KIAA1899 )
Gene Full Name: tubulin, gamma complex associated protein 5
Band: 15q11.2
Quick LinksEntrez ID:114791; OMIM: 608147; Uniprot ID:GCP5_HUMAN; ENSEMBL ID: ENSG00000153575
Sequences Top
>TUBGCP5|114791|nucleotide
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>TUBGCP5|114791|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) 2 (2) 3 (18) 0 (0) 0 (1) 2 (2) 22 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
ASIAN
Kato, 2008_1 Japan 2 (detail) 166
(11.45%)		ASD 19.9±9.8
-		 - 415
(66.75%)		 36±11.5
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
van der Zwaag, 2009_1 human blood--ASD RNA expression
  • Subjects: 3
  • Normal Controls: -
  • Methods: Quantitative RT-PCR
  • Evidence Details: Quantitative RT-PCR analysis revealed over 70% increase in peripheral blood mRNA levels for the four genes present in the duplicated region in patients
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
Microarray Studies: 2
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%)		 0.758377 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1803045
  • 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.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)		-autism 6
(0.00%)		 0.725175 Down 0.00977612
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1803045
  • 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
AutCNV0000010 15 15q11-13.33 gain 1 - Denovo CNVs; Sebat, 2007
AutCNV0000016 15 15q11-13 gain 5 - Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000148 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000181 15 15q11.2-q13.3 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000224 15 15q11-13 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000226 15 15q11-13 gain 1 - Denovo CNVs; Christian, 2008
AutCNV0000258 15 15q11-13 gain 1 - CNVs Only Present In Patients; Silva, 2002
AutCNV0000272 15 15q11.2-13 loss 2 - Overlapping/Recurrent CNVs; Wassink, 2001
AutCNV0000273 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000279 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2007
AutCNV0000284 15 15q11-13 gain 3 - Overlapping/Recurrent CNVs; Wolpert, 2000
AutCNV0000285 15 15q11-13 gain 3 - Denovo CNVs; Sahoo, 2005
AutCNV0000287 15 15p11-q13 gain 4 - Overlapping/Recurrent CNVs; Sahoo, 2005
AutCNV0000288 15 15p11-q13 gain 1 - CNVs Only Present In Patients; Sahoo, 2005
AutCNV0000290 15 15q11-13 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000342 15 15q11.2 loss 26 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0000399 15 15q11.2 gain 3 0 CNVs Only Present In Patients; van der Zwaag, 2009
AutCNV0000576 15 15q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000578 15 15q11.1-11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000585 15 15q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000587 15 15q11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000676 15 15q11-13 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2009
AutCNV0000739 15 15q11.2 gain 1 - paternal Bremer, 2011
AutCNV0000740 15 15q11.2 loss 1 - paternal Bremer, 2011
AutCNV0000834 15 15q11.2 loss 1 - paternal Pinto, 2010
AutCNV0000842 15 15q11.2 gain 1 - paternal Pinto, 2010
AutCNV0002090 15 15q11.2 gain 1 - paternal Pinto, 2010
AutCNV0003834 15 15q11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003835 15 15q11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003981 15 15q11.2 loss 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004311 15 15q11.1-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004314 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004565 15 15q11.2 Loss 1 - Denovo CNVs; Patircia, 2011
AutCNV0004630 15 15q11-13 Gain 4 - CNVs Only Present In Patients; Cai, 2008
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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