AutismKB

Evidence Detail for FOXP1


View Evidences View Annotations
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
>FOXP1|27086|nucleotide
Show »

>FOXP1|27086|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) 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.
InheritanceAD
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
Reference(s)20950788;
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

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