AutismKB

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 LinksEntrez ID:348093; OMIM: ; Uniprot ID:RBPS2_HUMAN; ENSEMBL ID: ENSG00000166831
Sequences Top
>RBPMS2|348093|nucleotide
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>RBPMS2|348093|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 (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
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Casey, 2011_1 human bloodASD 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
Case Control
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

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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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