Evidence Detail for FOXP1

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Basic Information Top
Gene Symbol:FOXP1 ( 12CC4,FLJ23741,MGC12942,MGC88572,MGC99551,QRF1,hFKH1B )
Gene Full Name: forkhead box P1
Band: 3p14.1
Quick LinksEntrez ID:27086; OMIM: 605515; Uniprot ID:FOXP1_HUMAN; ENSEMBL ID: ENSG00000114861
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) 0 (0) 1 (3) 0 (0) 0 (0) 3 (3) 23 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMMental retardation with language impairment and autistic features (613670)
DescriptionAutosomal dominant non-syndromic ID and ASD; disrupted in two patients with ID and autism/ASD
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
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Hamdan, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 215
  • Normal Controls: 570
  • Methods: array CGH, direct sequencing
  • Evidence Details: We identified a de novo intragenic deletion encompassing exons 4
O'Roak, 2011_1 human whole-bloodautism genetics: mutation screen
  • Subjects: 19 SSCs and 1 SAGE
  • Normal Controls: 20
  • Methods: whole genome exome sequencing by Illumina Genome Analyzer Iix with single or paired-end 76-bp reads
  • Evidence Details: De novo 4bp indel mutaion event was found in hg18 Chr3:71,132,860(p.Ala339SerfsX4)
O'Roak, 2011_2 human HEK293T cell--- RNA regulation
  • Subjects: -
  • Normal Controls: -
  • Methods: qRT-PCR
  • Evidence Details: In HEK293T cells, we found that wild-type FOXP1 significantly reduced expression of CNTNAP2 (P = 0.0005), whereas the truncated protein was associated with a threefold expression increase (P = 0.0056)
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0003805 3 3p14.1-p13 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004225 3 3p13-p14.1 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
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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