AutismKB 2.0

Evidence Details for FOXP2


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Basic Information Top
Gene Symbol:FOXP2 ( CAGH44,DKFZp686H1726,SPCH1,TNRC10 )
Gene Full Name: forkhead box P2
Band: 7q31.1
Quick LinksEntrez ID:93986; OMIM: 605317; Uniprot ID:FOXP2_HUMAN; ENSEMBL ID: ENSG00000128573; HGNC ID: 13875
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FOXP2|93986|nucleotide
ATGATGCAGGAATCTGCGACAGAGACAATAAGCAACAGTTCAATGAATCAAAATGGAATGAGCACTCTAAGCAGCCAATTAGATGCTGGCAGCAGAGATGGAAGA
TCAAGTGGTGACACCAGCTCTGAAGTAAGCACAGTAGAACTGCTGCATCTGCAACAACAGCAGGCTCTCCAGGCAGCAAGACAACTTCTTTTACAGCAGCAAACA
AGTGGATTGAAATCTCCTAAGAGCAGTGATAAACAGAGACCACTGCAGGTGCCTGTGTCAGTGGCCATGATGACTCCCCAGGTGATCACCCCTCAGCAAATGCAG
CAGATCCTTCAGCAACAAGTCCTGTCTCCTCAGCAGCTACAAGCCCTTCTCCAACAACAGCAGGCTGTCATGCTGCAGCAGCAACAACTACAAGAGTTTTACAAG
AAACAGCAAGAGCAGTTACATCTTCAGCTTTTGCAGCAGCAGCAGCAACAGCAGCAGCAGCAACAACAGCAGCAACAACAGCAGCAGCAACAACAACAACAACAG
CAGCAACAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCATCCTGGAAAGCAAGCGAAAGAGCAGCAGCAGCAGCAGCAGCAACAGCAATTGGCA
GCCCAGCAGCTTGTCTTCCAGCAGCAGCTTCTCCAGATGCAACAACTCCAGCAGCAGCAGCATCTGCTCAGCCTTCAGCGTCAGGGACTCATCTCCATTCCACCT
GGCCAGGCAGCACTTCCTGTCCAATCGCTGCCTCAAGCTGGCTTAAGTCCTGCTGAGATTCAGCAGTTATGGAAAGAAGTGACTGGAGTTCACAGTATGGAAGAC
AATGGCATTAAACATGGAGGGCTAGACCTCACTACTAACAATTCCTCCTCGACTACCTCCTCCAACACTTCCAAAGCATCACCACCAATAACTCATCATTCCATA
GTGAATGGACAGTCTTCAGTTCTAAGTGCAAGACGAGACAGCTCGTCACATGAGGAGACTGGGGCCTCTCACACTCTCTATGGCCATGGAGTTTGCAAATGGCCA
GGCTGTGAAAGCATTTGTGAAGATTTTGGACAGTTTTTAAAGCACCTTAACAATGAACACGCATTGGATGACCGAAGCACTGCTCAGTGTCGAGTGCAAATGCAG
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>FOXP2|93986|protein
MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQ
QILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQLA
AQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSI
VNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPK
PLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLT
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 1 (2) 0 (3) 1 (1) 1 (5) 0 (0) 0 (0) 0 (0) 1 (2) 2 (2) 36 (15)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_2 Replication Illumina 96 Golden Gate bead array 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
de Krom, 2008_1 Discovery the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 4
Case Control Based Association Studies: 1
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Marui, 2005_1 Japan ABI 7900HT sequence detection systemASD 20.8
(3-41)
- 214
(32.24%)
34.6
(21-66)
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
O'Roak BJ, 2012 USA Illumina HiSeq 2000--ASD - - - 2446 -
Alvarez-Mora MI, 2016 - Illumina MiSeqASD - - - 44 Sanger sequencing
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018