Evidence Detail for FMR1

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Basic Information Top
Gene Symbol:FMR1 ( FMRP,FRAXA,MGC87458,POF,POF1 )
Gene Full Name: fragile X mental retardation 1
Band: Xq27.3
Quick LinksEntrez ID:2332; OMIM: 309550; Uniprot ID:FMR1_HUMAN; ENSEMBL ID: ENSG00000102081
Sequences Top
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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) 1 (1) 0 (0) 0 (0) 1 (1) 3 (6) 25 (8)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMFragile X syndrome (300624)
DescriptionFragile X syndrome is found in ~2% of individuals with ASD. ~60% of males with the full mutation have ASD, ~20% in females. The premutation is also associated with an increased risk of ASD: 10-15% in males, 5% in females
Reference(s)17031449; 15070547; 20643379;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Klauck, 1997_1 human bloodASD genetics: mutation screen
  • Subjects: 105 simplex, 108 multiplex
  • Normal Controls: -
  • Methods: southern blot, PCR amplification of the CCG repeat
  • Evidence Details: No significant changes were found in 139 patients (99%) from 122 families, other than the normal variations in the population.
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 134 X-linked synapic genes
Fatemi, 2011_1 human brain--autism expression level
  • Subjects: 20
  • Normal Controls: 10
  • Methods: western blot
  • Evidence Details: We observed significantly reduced levels of protein for FMRP in adults with autism, significantly increased levels of protein for mGluR5 in children with autism and significantly increased levels of GFAP in adults and children with autism. We found no change in expression of GABRb3.
Chonchaiya, 2011_1 human bloodFragile X syndrome genotype-phenotype interaction
  • Subjects: 50 boys
  • Normal Controls: 32
  • Methods: Southern Bolt and PCR-based genotyping analyses
  • Evidence Details: "Seizures and ASD are more prvalent in boys with the premutation, particularly in those who were probands of the family comparedn with their siblings without a premutation"
Testa-Sliva, 2011_1 mouse neurons--- Animal model
  • Subjects: -
  • Normal Controls: -
  • Methods: knock-out mouse
  • Evidence Details: Hyperconnectivity and Slow Synapses during Early Development of Medial Prefrontal Cortex in a Mouse Model for Mental Retardation and Autism
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 0 functional rare mutation was found in ASD case, 2 in control
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
Nishimura, 2007_1 America lymphoblastoid cell lines 8
autism with FMR1-FMautism 15
0.54 Down 0.0000000000000041
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_002024
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
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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