AutismKB

Evidence Detail for CARHSP1


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Basic Information Top
Gene Symbol:CARHSP1 ( CRHSP-24,CSDC1,MGC111446 )
Gene Full Name: calcium regulated heat stable protein 1, 24kDa
Band: 16p13.2
Quick LinksEntrez ID:23589; OMIM: ; Uniprot ID:CHSP1_HUMAN; ENSEMBL ID: ENSG00000153048
Sequences Top
>CARHSP1|23589|nucleotide
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>CARHSP1|23589|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) 1 (4) 2 (4) 0 (0) 0 (0) 6 (6)
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: 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%)
1.38565 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1809477
  • 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%)
1.30192 Up 0.0191563
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1809477
  • 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
AutCNV0000343 16 16p13 loss 3 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0003724 16 16p13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003840 16 16p13.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003841 16 16p13.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004329 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004330 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004568 16 16p13.2 Gain 1 - Denovo CNVs; Patircia, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000005 16p13.2 16 ATA41E04 1.64 - - McCauley, 2005
AutLD0000026 16p13.2 16 D16S407 1.28 - - Bailey, 1998
AutLD0000037 16p13.2 16 D16S407 1.59 - - Monaco, 2001
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004

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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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