AutismKB

Evidence Detail for MSX1


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Basic Information Top
Gene Symbol:MSX1 ( HOX7,HYD1,STHAG1 )
Gene Full Name: msh homeobox 1
Band: 4p16.2
Quick LinksEntrez ID:4487; OMIM: 142983; Uniprot ID:MSX1_HUMAN; ENSEMBL ID: ENSG00000163132
Sequences Top
>MSX1|4487|nucleotide
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>MSX1|4487|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) 3 (3) 1 (1) 0 (0) 0 (0) 0 (0) 5 (3)
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
Large Scale Expression Studies Top
Microarray Studies: 3
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%)
1.62 Up 0.0844
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1777397
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.33331 Up 0.932912
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1777397
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
1.52077 Up 0.0844266
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1777397
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
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
AutCNV0000019 4 4p15.32-16.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
Linkage Studies Top

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  (e.g. CDH8)

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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