AutismKB

Evidence Detail for CSMD1


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Basic Information Top
Gene Symbol:CSMD1 ( KIAA1890 )
Gene Full Name: CUB and Sushi multiple domains 1
Band: 8p23.2
Quick LinksEntrez ID:64478; OMIM: 608397; Uniprot ID:CSMD1_HUMAN; ENSEMBL ID: ENSG00000183117
Sequences Top
>CSMD1|64478|nucleotide
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>CSMD1|64478|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 (1) 0 (0) 2 (8) 0 (0) 0 (0) 1 (1) 11 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
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
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000023 8 8p23.1-23.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000250 8 8p23.3-23.2 loss 3 - Overlapping/Recurrent CNVs; Yu, 2002
AutCNV0000264 8 8p21-23 gain 1 - CNVs Only Present In Patients; Papanikolaou, 2006
AutCNV0000271 8 8p23 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0001885 8 8p23.2 gain 1 - paternal Pinto, 2010
AutCNV0000079 8 8p23.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000080 8 8p23.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000081 8 8p23.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000121 8 8p23.2 gain 1 - Denovo CNVs; Szatmari, 2007
AutCNV0001488 8 8p23.2 loss 1 - DeNovo Pinto, 2010
AutCNV0001886 8 8p23.2 gain 1 - paternal Pinto, 2010
AutCNV0001887 8 8p23.2 loss 1 - paternal Pinto, 2010
AutCNV0003266 8 8p23.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003267 8 8p23.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004535 8 8p23.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0002683 8 8p23.2 loss 1 - maternal Pinto, 2010
AutCNV0003268 8 8p23.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003269 8 8p23.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003270 8 8p23.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003271 8 8p23.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003272 8 8p23.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003616 8 8p23.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003816 8 8p23.2 loss 1 - Denovo CNVs; Levy, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

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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