AutismKB

Evidence Detail for FOXP2


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Basic Information Top
Gene Symbol:FOXP2 ( CAGH44,DKFZp686H1726,SPCH1,TNRC10 )
Gene Full Name: forkhead box P2
Band: 7q31
Quick LinksEntrez ID:93986; OMIM: 605317; Uniprot ID:FOXP2_HUMAN; ENSEMBL ID: ENSG00000128573
Sequences Top
>FOXP2|93986|nucleotide
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>FOXP2|93986|protein
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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) No 1 (2) 0 (0) 1 (3) 1 (1) 1 (5) 3 (3) 33 (12)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 4
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Marui, 2005_1 Japan 5 (detail) 170
(13.53%)
ASD 20.8
(3-41)
- 214
(32.24%)
34.6
(21-66)
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_1 Discovery 2 (detail) 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
de Krom, 2008_2 Replication 2 (detail) 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Li, 2005_1 human ---AD genetics: mutation screen
  • Subjects: 53
  • Normal Controls: -
  • Methods: denaturing high-performance liquid chromatography and direct sequencing
  • Evidence Details: A delCAA in exon 5 causing one glutamine deletion in the first polyglutamine tract was detected in four patients and in 2 of 50 control individuals. The frequency of the TT allele with the G to T base change in intron 15 was significantly high in the autistic population. The other base changes included one silent base change (A569G) in exon 5 and three in introns. Our results may suggest a relationship between autism and the FOXP2 gene or a gene located nearby.
Laroche, 2008_1 human ---AD genetics: mutation screen
  • Subjects: 98
  • Normal Controls: 112 super controls and 202 healthy controls
  • Methods: mutation screen
  • Evidence Details: Two different polymorphisms in FOXP2 were, however, found only in autistic patients and the functional consequences of these variations of repeats have to be characterized and correlated to particular clinical features.
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.170).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000142 7 7q31.1-31.31 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000143 7 7q31.1-32.2 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000510 7 7q31.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000511 7 7q31.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0004266 7 7q31.1-q31.31 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004269 7 7q31.1-q32.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000058 7q31.1 7 D7S523 1.02 - - Liu, 2001

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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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