AutismKB

Evidence Detail for POMT1


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Basic Information Top
Gene Symbol:POMT1 ( FLJ37239,LGMD2K,RT )
Gene Full Name: protein-O-mannosyltransferase 1
Band: 9q34.1
Quick LinksEntrez ID:10585; OMIM: 607423; Uniprot ID:POMT1_HUMAN; ENSEMBL ID: ENSG00000130714
Sequences Top
>POMT1|10585|nucleotide
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>POMT1|10585|protein
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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) Yes 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (609308)
DescriptionLimb-girdle muscular dystrophy with ID; Walker-Warburg syndrome
Reference(s)16717220;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000549 9 9q34.12-34.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0004103 9 9q34.13 gain 1 1 CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top

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  (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
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