Evidence Detail for RIMS3

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Basic Information Top

Gene Symbol:	RIMS3 ( KIAA0237,NIM3,RIM3 )
Gene Full Name:	regulating synaptic membrane exocytosis 3
Band:	1pter-p22.2
Quick Links	Entrez ID:9783; OMIM: 611600; Uniprot ID:RIMS3_HUMAN; ENSEMBL ID: ENSG00000117016

Sequences Top

nucleotide Sequence
Protein Sequence

>RIMS3|9783|nucleotide
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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)	0 (0)	0 (0)	0 (0)	2 (2)	17 (5)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

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	Diagnosis	Evidence Level
Kumar, 2009_1	human	blood	autism	case report
Subjects: 1 Normal Controls: - Methods: array comparative genomic hybridisation (aCGH), FISH Evidence Details: A de novo 3.3?Mb deletion containing ~43 genes in chromosome 1p34.2p34.3 was identified and subsequently confirmed using fluorescence in situ hybridization (FISH). Literature review and bioinformatics analyses identified Regulating Synaptic Membrane Exocytosis 3 (RIMS3) as the most promising autism candidate gene.
Kumar, 2009_2	human	blood	autism	genetics: mutation screen
Subjects: 512 (151 female and 355 male) from 84 simplex and 428 multiplex families Normal Controls: 462 Methods: PCR-based Sanger sequencing Evidence Details: Mutation screening of this gene in autism patients identified five inherited coding variants, including one (p.E177A) that segregated with the autism phenotype in a sibship, was predicted to be deleterious, and was absent in 1161 controls.

Large Scale Expression Studies Top

Microarray Studies: 3

Reference	Population	Tissue	#Subjects (% Women)	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Nishimura, 2007_1	America	lymphoblastoid cell lines	8 (-)	autism with FMR1-FM	autism	15 (-)	0.66	Down	0.0000019
Platform: Whole Human Genome Array G4112A (Agilent) ProbeSet: - RefSeq_ID/ EST: NM_014747 GEO_ID: GSE7329 Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Nishimura, 2007_2	America	lymphoblastoid cell lines	7 (-)	autism with dup(15q)	autism	15 (-)	0.75	Down	0.0000019
Platform: Whole Human Genome Array G4112A (Agilent) ProbeSet: - RefSeq_ID/ EST: NM_014747 GEO_ID: GSE7329 Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Ghahramani Seno, 2010_1	Unknown	lymphoblastoid cell-line	20 (35.00%)	-	AD	22 (13.64%)	1.42	Up	0.0559
Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA) ProbeSet: ILMN_1742382 RefSeq_ID/ EST: - GEO_ID: - Statistic Method: Generalized Estimating Equations (GEE)

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0004635	1	1p34.2-34.3	Loss	1	-		Kumar, 2009

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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