AutismKB 2.0

Evidence Details for MSX1


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Basic Information Top
Gene Symbol:MSX1 ( HOX7,HYD1,STHAG1 )
Gene Full Name: msh homeobox 1
Band: 4p16.2
Quick LinksEntrez ID:4487; OMIM: 142983; Uniprot ID:MSX1_HUMAN; ENSEMBL ID: ENSG00000163132; HGNC ID: 7391
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MSX1|4487|nucleotide
ATGGCCCCGGCTGCTGACATGACTTCTTTGCCACTCGGTGTCAAAGTGGAGGACTCCGCCTTCGGCAAGCCGGCGGGGGGAGGCGCGGGCCAGGCCCCCAGCGCC
GCCGCGGCCACGGCAGCCGCCATGGGCGCGGACGAGGAGGGGGCCAAGCCCAAAGTGTCCCCTTCGCTCCTGCCCTTCAGCGTGGAGGCGCTCATGGCCGACCAC
AGGAAGCCGGGGGCCAAGGAGAGCGCCCTGGCGCCCTCCGAGGGCGTGCAGGCGGCGGGTGGCTCGGCGCAGCCACTGGGCGTCCCGCCGGGGTCGCTGGGAGCC
CCGGACGCGCCCTCTTCGCCGCGGCCGCTCGGCCATTTCTCGGTGGGGGGACTCCTCAAGCTGCCAGAAGATGCGCTCGTCAAAGCCGAGAGCCCCGAGAAGCCC
GAGAGGACCCCGTGGATGCAGAGCCCCCGCTTCTCCCCGCCGCCGGCCAGGCGGCTGAGCCCCCCAGCCTGCACCCTCCGCAAACACAAGACGAACCGTAAGCCG
CGGACGCCCTTCACCACCGCGCAGCTGCTGGCGCTGGAGCGCAAGTTCCGCCAGAAGCAGTACCTGTCCATCGCCGAGCGCGCGGAGTTCTCCAGCTCGCTCAGC
CTCACTGAGACGCAGGTGAAGATATGGTTCCAGAACCGCCGCGCCAAGGCAAAGAGACTACAAGAGGCAGAGCTGGAGAAGCTGAAGATGGCCGCCAAGCCCATG
CTGCCACCGGCTGCCTTCGGCCTCTCCTTCCCTCTCGGCGGCCCCGCAGCTGTAGCGGCCGCGGCGGGTGCCTCGCTCTACGGTGCCTCTGGCCCCTTCCAGCGC
GCCGCGCTGCCTGTGGCGCCCGTGGGACTCTACACGGCCCATGTGGGCTACAGCATGTACCACCTGACATAG


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>MSX1|4487|protein
MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMGADEEGAKPKVSPSLLPFSVEALMADHRKPGAKESALAPSEGVQAAGGSAQPLGVPPGSLGA
PDAPSSPRPLGHFSVGGLLKLPEDALVKAESPEKPERTPWMQSPRFSPPPARRLSPPACTLRKHKTNRKPRTPFTTAQLLALERKFRQKQYLSIAERAEFSSSLS
LTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASGPFQRAALPVAPVGLYTAHVGYSMYHLT


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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 (1) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top