Evidence Detail for RBPMS2

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Basic Information Top

Gene Symbol:	RBPMS2 ( - )
Gene Full Name:	RNA binding protein with multiple splicing 2
Band:	15q22.31
Quick Links	Entrez ID:348093; OMIM: ; Uniprot ID:RBPS2_HUMAN; ENSEMBL ID: ENSG00000166831

Sequences Top

nucleotide Sequence
Protein Sequence

>RBPMS2|348093|nucleotide
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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)	1 (1)	1 (3)	0 (0)	0 (0)	1 (1)	10 (2)

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	ADI-R	ADOS	Diagnosis	Evidence Level	Result
Casey, 2011_1	human	blood			ASD	Homozygous Haplotye mapping
Subjects: 2584 trios Normal Controls: - Methods: Illumina 1M/1Mduo Genechip Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.258).

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Ghahramani Seno, 2010_1	Unknown	lymphoblastoid cell-line	20 (35.00%)			-	AD	22 (13.64%)	1.35	Up	0.134
Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA) ProbeSet: ILMN_1808238 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
AutCNV0000028	15	15q21.2-26.3	gain	1	-	CNVs Overlapping With ACRD;	Szatmari, 2007
AutCNV0000110	15	15q21.2-26.3	gain	1	-	Overlapping/Recurrent CNVs;	Szatmari, 2007
AutCNV0000274	15	15q22	loss	1	-	CNVs Only Present In Patients;	Wassink, 2001
AutCNV0000291	15	15q22-23	loss	1	-	CNVs Only Present In Patients;	Smith, 2000

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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