AutismKB

Evidence Detail for RIMS2


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Basic Information Top
Gene Symbol:RIMS2 ( DKFZp781A0653,KIAA0751,OBOE,RAB3IP3,RIM2 )
Gene Full Name: regulating synaptic membrane exocytosis 2
Band: 8q22.3
Quick LinksEntrez ID:9699; OMIM: 606630; Uniprot ID:RIMS2_HUMAN; ENSEMBL ID: ENSG00000176406
Sequences Top
>RIMS2|9699|nucleotide
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>RIMS2|9699|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 (2) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_1 Discovery 1 (detail) 124 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_2 Replication 1 (detail) 110 -
(-)
AS -
(3-21)
-
>70
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
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 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
AutCNV0000082 8 8q22.3-24.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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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