AutismKB 2.0

Evidence Details for FOXB1


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Basic Information Top
Gene Symbol:FOXB1 ( FKH5,HFKH-5 )
Gene Full Name: forkhead box B1
Band: 15q22.2
Quick LinksEntrez ID:27023; OMIM: NA; Uniprot ID:FOXB1_HUMAN; ENSEMBL ID: ENSG00000171956; HGNC ID: 3799
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FOXB1|27023|nucleotide
ATGCCTCGGCCCGGCCGCAACACGTACAGCGACCAGAAGCCGCCCTACTCGTACATCTCGCTGACCGCTATGGCCATCCAGAGCTCTCCCGAGAAGATGCTGCCG
CTGAGCGAGATCTACAAGTTCATCATGGACCGCTTCCCCTACTACAGGGAGAACACGCAGCGCTGGCAGAACAGTCTGCGCCACAACCTCTCCTTCAACGACTGC
TTCATCAAGATCCCGCGGCGGCCGGACCAGCCAGGCAAGGGCAGCTTCTGGGCGCTGCACCCAAGCTGCGGGGACATGTTCGAGAACGGCAGCTTCCTGCGGCGC
CGCAAGCGCTTCAAGGTGCTTAAGTCCGACCACCTGGCGCCCAGCAAGCCAGCCGACGCGGCGCAGTACCTGCAGCAGCAGGCCAAGCTGCGGCTCAGCGCGCTG
GCGGCCTCGGGCACGCACCTGCCACAGATGCCCGCCGCCGCCTACAACTTGGGCGGCGTGGCGCAGCCCTCGGGCTTCAAGCACCCCTTCGCCATCGAGAACATC
ATCGCGCGGGAATACAAGATGCCTGGGGGGCTGGCCTTCTCCGCCATGCAGCCGGTGCCCGCTGCCTACCCGCTCCCCAACCAGTTGACTACCATGGGCAGCTCG
CTGGGCACCGGCTGGCCACACGTGTATGGCTCCGCCGGCATGATCGACTCGGCCACCCCCATCTCCATGGCGAGTGGCGACTACAGCGCCTACGGCGTGCCGTTG
AAGCCGCTGTGCCACGCGGCGGGCCAAACGCTGCCCGCCATCCCCGTGCCCATTAAGCCCACGCCGGCCGCCGTGCCCGCGCTGCCTGCGCTGCCAGCGCCCATC
CCCACCTTGCTCTCGAACTCGCCGCCCTCGCTCAGCCCCACGTCCTCGCAAACAGCCACCAGCCAAAGCAGCCCCGCCACCCCCAGCGAAACGCTCACCAGCCCG
GCCTCCGCCTTGCACTCGGTGGCGGTGCACTGA

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>FOXB1|27023|protein
MPRPGRNTYSDQKPPYSYISLTAMAIQSSPEKMLPLSEIYKFIMDRFPYYRENTQRWQNSLRHNLSFNDCFIKIPRRPDQPGKGSFWALHPSCGDMFENGSFLRR
RKRFKVLKSDHLAPSKPADAAQYLQQQAKLRLSALAASGTHLPQMPAAAYNLGGVAQPSGFKHPFAIENIIAREYKMPGGLAFSAMQPVPAAYPLPNQLTTMGSS
LGTGWPHVYGSAGMIDSATPISMASGDYSAYGVPLKPLCHAAGQTLPAIPVPIKPTPAAVPALPALPAPIPTLLSNSPPSLSPTSSQTATSQSSPATPSETLTSP
ASALHSVAVH

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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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top