AutismKB

Evidence Detail for MID1


View Evidences View Annotations
Basic Information Top
Gene Symbol:MID1 ( BBBG1,FLJ57031,FLJ58683,FLJ76288,FXY,GBBB1,MIDIN,OGS1,OS,OSX,RNF59,TRIM18,XPRF,ZNFXY )
Gene Full Name: midline 1 (Opitz/BBB syndrome)
Band: Xp22
Quick LinksEntrez ID:4281; OMIM: 300552; Uniprot ID:TRI18_HUMAN; ENSEMBL ID: ENSG00000101871
Sequences Top
>MID1|4281|nucleotide
Show »

>MID1|4281|protein
Show »

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) Yes 0 (0) 1 (1) 1 (5) 0 (0) 0 (0) 0 (0) 3 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMOpitz G syndrome, type I (300000)
DescriptionOpitz syndrome (Opitz/BBB syndrome)
Reference(s)11030761; 18697196;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.06523 Up 0.0151643
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 203637_s_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
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
AutCNV0000247 X Xp22.22 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000301 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000868 X Xp22.2 gain 1 - paternal Pinto, 2010
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:


  (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
  • Click to Download Data

Registered with NIF