AutismKB

Evidence Detail for CCDC92


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Basic Information Top
Gene Symbol:CCDC92 ( FLJ22471 )
Gene Full Name: coiled-coil domain containing 92
Band: 12q24.31
Quick LinksEntrez ID:80212; OMIM: ; Uniprot ID:CCD92_HUMAN; ENSEMBL ID: ENSG00000119242
Sequences Top
>CCDC92|80212|nucleotide
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>CCDC92|80212|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 (4) 0 (0) 0 (0) 0 (0) 3 (1)
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
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.17 Up 0.117
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1731107
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
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
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000146 12 12q24.21-24.33 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0002035 12 12q24.31-24.32 gain 1 - paternal Pinto, 2010
AutCNV0004303 12 12q24.21-q24.33 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
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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