AutismKB

Evidence Detail for CLIC1


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Basic Information Top
Gene Symbol:CLIC1 ( G6,NCC27 )
Gene Full Name: chloride intracellular channel 1
Band: 6p21.3
Quick LinksEntrez ID:1192; OMIM: 602872; Uniprot ID:CLIC1_HUMAN; ENSEMBL ID: ENSG00000213719
Sequences Top
>CLIC1|1192|nucleotide
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>CLIC1|1192|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) 3 (3) 1 (2) 0 (0) 0 (0) 0 (0) 5 (3)
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: 3
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.1517 Up 0.0101728
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 208659_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.68284 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1756982
  • 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%)
1.96688 Up 0.0199164
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1756982
  • 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
AutCNV0000488 6 6p21.32-21.33 Gain 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000489 6 6p21.32-21.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000490 6 6p21.32-21.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000699 6 6p21 Gain - - CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
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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