AutismKB 2.0

Evidence Details for FOXD4


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Basic Information Top
Gene Symbol:FOXD4 ( FKHL9,FOXD4A,FREAC5,MGC105106 )
Gene Full Name: forkhead box D4
Band: 9p24.3
Quick LinksEntrez ID:2298; OMIM: 601092; Uniprot ID:FOXD4_HUMAN; ENSEMBL ID: ENSG00000170122; HGNC ID: 3805
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FOXD4|2298|nucleotide
ATGAACTTGCCAAGAGCTGAGCGCCTTCGCTCCACACCGCAGCGCAGCCTCCGGGACTCCGATGGGGAAGACGGTAAAATCGATGTCCTGGGAGAGGAGGAAGAT
GAAGACGAGGAGGAGGCGGCGAGCCAGCAGTTCCTAGAGCAGTCGCTCCAGCCGGGGCTGCAGGTGGCCCGGTGGGGCGGGGTTGCGCTTCCCCGAGAGCACATC
GAGGGCGGCGGCGGCCCGAGCGACCCCTCAGAGTTTGGCACCGAGTTCAGGGCACCGCCAAGGTCTGCGGCGGCCTCTGAAGATGCCCGGCAGCCGGCAAAGCCC
CCCTCCTCGTACATCGCGCTCATCACCATGGCCATCCTGCAAAGCCCGCACAAGCGCCTCACGCTCAGCGGCATCTGCGCCTTCATTAGTGACCGCTTCCCCTAC
TACCGCCGCAAGTTCCCCGCCTGGCAGAACAGCATCCGCCACAACCTCTCGCTGAACGACTGCTTCGTCAAGATCCCCCGCGAGCCGGGCCGCCCAGGCAAGGGC
AACTACTGGAGCCTGGACCCCGCCTCCCAGGACATGTTCGACAATGGCAGCTTTCTCCGGCGTAGGAAGCGTTTCCAGCGCCACCAACCGACCCCGGGAGCCCAC
CTGCCCCACCCCTTCCCTCTACCTGCTGCACACGCCGCCCTGCACAACCCCCGCCCAGGCCCTCTGCTTGGGGCCCCTGCCCCGCCGCAGCCAGTCCCGGGGGCC
TACCCCAACACCGGCCCCGGGAGACGCCCTTACGCTCTGCTGCACCCGCATCCTCCTCGCTACCTACTGCTCTCGGCCCCCGCCTATGCCGGGGCACCGAAGAAA
GCAGAAGGCGCGGACCTGGCGACCCCGGCACCCTTCCCGTGCTGCAGCCCTCACTTGGTCCTCAGCCTTGGGAGGAGGGCAAGGGTCTGGCGTCGCCACCGGGAG
GCGGATGCATCTCTTTCAGCATTGAGAGTATCATGCAAGGGGTCAGGGGAGCGGGTACAGGGGCTGCGCAGAGTTTGTCCCCGACCGCGTGGAGCTACTGCCCCC
TGCTCCAGCGACCGTCAAGCCTGTCGGACAATTTTGCAGCAACAGCAGCGGCATCAGGAGGAGGACTGCGCCAACGGCTGCGCTCCCACCAAGGGCGCGGTGCTG
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>FOXD4|2298|protein
MNLPRAERLRSTPQRSLRDSDGEDGKIDVLGEEEDEDEEEAASQQFLEQSLQPGLQVARWGGVALPREHIEGGGGPSDPSEFGTEFRAPPRSAAASEDARQPAKP
PSSYIALITMAILQSPHKRLTLSGICAFISDRFPYYRRKFPAWQNSIRHNLSLNDCFVKIPREPGRPGKGNYWSLDPASQDMFDNGSFLRRRKRFQRHQPTPGAH
LPHPFPLPAAHAALHNPRPGPLLGAPAPPQPVPGAYPNTGPGRRPYALLHPHPPRYLLLSAPAYAGAPKKAEGADLATPAPFPCCSPHLVLSLGRRARVWRRHRE
ADASLSALRVSCKGSGERVQGLRRVCPRPRGATAPCSSDRQACRTILQQQQRHQEEDCANGCAPTKGAVLGGHLSAASALLRYQAVAEGSGLTSLAAPLGGEGTS
PVFLVSPTPSSLAESAGPS
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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 0 (0) 0 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top