AutismKB

Evidence Detail for GOLGA8B


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Basic Information Top
Gene Symbol:GOLGA8B ( GOLGA5,KIAA0855 )
Gene Full Name: golgin A8 family, member B
Band: 15q14
Quick LinksEntrez ID:440270; OMIM: 609619; Uniprot ID:GOG8B_HUMAN; ENSEMBL ID: ENSG00000215252
Sequences Top
>GOLGA8B|440270|nucleotide
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>GOLGA8B|440270|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) 1 (3) 1 (3) 0 (0) 0 (0) 4 (4)
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.807786 Down 3.24088
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2103547
  • 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
AutCNV0000591 15 15q14 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000592 15 15q14 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000593 15 15q14 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000594 15 15q14 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0002095 15 15q14 gain 1 - paternal Pinto, 2010
AutCNV0003374 15 15q14 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003375 15 15q14 gain 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000055 15q14 15 D15S118 1.1 - - Philippe, 1999
AutLD0000136 15q14 15 D15S1042 - - 0.00917 Lauritsen, 2006
AutLD0000155 15q13.1-q14 15 rs8033248 4.09 - - Allen-Brady, 2010
AutLD0000156 15q14-q21.1 15 rs723049 3.59 - - Allen-Brady, 2010

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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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