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 Links	Entrez ID:93986; OMIM: 605317; Uniprot ID:FOXP2_HUMAN; ENSEMBL ID: ENSG00000128573

Sequences Top

nucleotide Sequence
Protein Sequence

>FOXP2|93986|nucleotide
ATGATGCAGGAATCTGCGACAGAGACAATAAGCAACAGTTCAATGAATCAAAATGGAATGAGCACTCTAAGCAGCCAATTAGATGCTGGCAGCAGAGATGGAAGA
TCAAGTGGTGACACCAGCTCTGAAGTAAGCACAGTAGAACTGCTGCATCTGCAACAACAGCAGGCTCTCCAGGCAGCAAGACAACTTCTTTTACAGCAGCAAACA
AGTGGATTGAAATCTCCTAAGAGCAGTGATAAACAGAGACCACTGCAGGTGCCTGTGTCAGTGGCCATGATGACTCCCCAGGTGATCACCCCTCAGCAAATGCAG
CAGATCCTTCAGCAACAAGTCCTGTCTCCTCAGCAGCTACAAGCCCTTCTCCAACAACAGCAGGCTGTCATGCTGCAGCAGCAACAACTACAAGAGTTTTACAAG
AAACAGCAAGAGCAGTTACATCTTCAGCTTTTGCAGCAGCAGCAGCAACAGCAGCAGCAGCAACAACAGCAGCAACAACAGCAGCAGCAACAACAACAACAACAG
CAGCAACAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCATCCTGGAAAGCAAGCGAAAGAGCAGCAGCAGCAGCAGCAGCAACAGCAATTGGCA
GCCCAGCAGCTTGTCTTCCAGCAGCAGCTTCTCCAGATGCAACAACTCCAGCAGCAGCAGCATCTGCTCAGCCTTCAGCGTCAGGGACTCATCTCCATTCCACCT
GGCCAGGCAGCACTTCCTGTCCAATCGCTGCCTCAAGCTGGCTTAAGTCCTGCTGAGATTCAGCAGTTATGGAAAGAAGTGACTGGAGTTCACAGTATGGAAGAC
AATGGCATTAAACATGGAGGGCTAGACCTCACTACTAACAATTCCTCCTCGACTACCTCCTCCAACACTTCCAAAGCATCACCACCAATAACTCATCATTCCATA
GTGAATGGACAGTCTTCAGTTCTAAGTGCAAGACGAGACAGCTCGTCACATGAGGAGACTGGGGCCTCTCACACTCTCTATGGCCATGGAGTTTGCAAATGGCCA
GGCTGTGAAAGCATTTGTGAAGATTTTGGACAGTTTTTAAAGCACCTTAACAATGAACACGCATTGGATGACCGAAGCACTGCTCAGTGTCGAGTGCAAATGCAG
GTGGTGCAACAGTTAGAAATACAGCTTTCTAAAGAACGCGAACGTCTTCAAGCAATGATGACCCACTTGCACATGCGACCCTCAGAGCCCAAACCATCTCCCAAA
CCTCTAAATCTGGTGTCTAGTGTCACCATGTCGAAGAATATGTTGGAGACATCCCCACAGAGCTTACCTCAAACCCCTACCACACCAACGGCCCCAGTCACCCCG
ATTACCCAGGGACCCTCAGTAATCACCCCAGCCAGTGTGCCCAATGTGGGAGCCATACGAAGGCGACATTCAGACAAATACAACATTCCCATGTCATCAGAAATT
GCCCCAAACTATGAATTTTATAAAAATGCAGATGTCAGACCTCCATTTACTTATGCAACTCTCATAAGGCAGGCTATCATGGAGTCATCTGACAGGCAGTTAACA
CTTAATGAAATTTACAGCTGGTTTACACGGACATTTGCTTACTTCAGGCGTAATGCAGCAACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACAAGTGT
TTTGTTCGAGTAGAAAATGTTAAAGGAGCAGTATGGACTGTGGATGAAGTAGAATACCAGAAGCGAAGGTCACAAAAGATAACAGGAAGTCCAACCTTAGTAAAA
AATATACCTACCAGTTTAGGCTATGGAGCAGCTCTTAATGCCAGTTTGCAGGCTGCCTTGGCAGAGAGCAGTTTACCTTTGCTAAGTAATCCTGGACTGATAAAT
AATGCATCCAGTGGCCTACTGCAGGCCGTCCACGAAGACCTCAATGGTTCTCTGGATCACATTGACAGCAATGGAAACAGTAGTCCGGGCTGCTCACCTCAGCCG
CACATACATTCAATCCACGTCAAGGAAGAGCCAGTGATTGCAGAGGATGAAGACTGCCCAATGTCCTTAGTGACAACAGCTAATCACAGTCCAGAATTAGAAGAC
GACAGAGAGATTGAAGAAGAGCCTTTATCTGAAGATCTGGAATGA
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>FOXP2|93986|nucleotide
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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)	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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Newbury, 2002_1	England	5 (detail)	169	- (-)			AD	- -	- -
Wassink, 2002_1	USA	2 (detail)	75	- (-)			ASD	- -	- -
Gauthier, 2003_1	Canada	4 (detail)	79	79 (-)			PDD	15.3 -	- -
ASIAN
Gong, 2004_1	China	3 (detail)	181	181 (11.60%)			ASD	- (2.46-17.42)	- -

Case Control Based Association Studies: 1

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 2

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
de Krom, 2008_2	Replication	2 (detail)	128 (14.06%)			ASD	- (4-18)	-	273 (-)	- -
de Krom, 2008_1	Discovery	2 (detail)	144 (17.36%)			ASD	- (4-18)	-	404 (-)	- -

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
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	blood			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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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