Evidence Detail for DISC1

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Basic Information Top
Gene Symbol:DISC1 ( C1orf136,FLJ13381,FLJ21640,FLJ25311,FLJ41105,KIAA0457,SCZD9 )
Gene Full Name: disrupted in schizophrenia 1
Band: 1q42.1
Quick LinksEntrez ID:27185; OMIM: 605210; Uniprot ID:DISC1_HUMAN; ENSEMBL ID: ENSG00000162946
Sequences Top
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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) 0 (0) 1 (3) 0 (0) 2 (4) 2 (3) 22 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Lim, 2009_1 Korea 3 (detail) 195
ASD 39.9±4.8(male), 14.1±3.2(female)
- 305
39.9±5.8(male), 33.5±6.2(female)
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Williams, 2009_1 human bloodASD case report
  • Subjects: a 3-year-old male with no family history
  • Normal Controls: -
  • Methods: array comparative genome hybridization (aCGH) analysis
  • Evidence Details: Here we report a 3-year-old male with developmental delay and autistic behaviors who has an interstitial of deletion 1q42. The deletion spans approximately 2?Mb, involves DISC1, DISC2, and TSNAX and was inherited from his nonaffected mother.
Crepel, 2009_1 human bloodautism genetics: mutation screen
  • Subjects: 260
  • Normal Controls: -
  • Methods: Quantitative real-time PCR
  • Evidence Details: No deletions or duplications were found in the autism cohort.
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
AutCNV0001186 1 1q42.2 gain 1 - paternal Pinto, 2010
AutCNV0001574 1 1q42.2 gain 1 - paternal Pinto, 2010
AutCNV0002353 1 1q42.2 gain 1 - maternal Pinto, 2010
AutCNV0000773 1 1q42.2 gain 1 - maternal Pinto, 2010
AutCNV0003465 1 1q42.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 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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