AutismKB 2.0

Evidence Details for FOXP2


View Evidences View Variants View Annotations
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
Show »

>FOXP2|93986|protein
MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQ
QILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQLA
AQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSI
VNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPK
PLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLT
Show »

Evidence summary 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 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_1 Discovery the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
de Krom, 2008_2 Replication Illumina 96 Golden Gate bead array 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
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

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.

Simple Query:


  (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