AutismKB 2.0

Evidence Details for EXT1


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Basic Information Top
Gene Symbol:EXT1 ( EXT,LGCR,LGS,TRPS2,TTV )
Gene Full Name: exostosin 1
Band: 8q24.11
Quick LinksEntrez ID:2131; OMIM: 608177; Uniprot ID:EXT1_HUMAN; ENSEMBL ID: ENSG00000182197; HGNC ID: 3512
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EXT1|2131|nucleotide
ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTGTTTTATTTCGGAGGCTTGCAGTTTAGGGCATCGAGGAGCCACAGC
CGGAGAGAAGAACACAGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGACGCTCTGCGCCCCTTCGTTCCTTGGGATCAA
TTGGAAAACGAGGATTCCAGCGTGCACATTTCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACAAAGGCAAGAAGTGCCGCATGGAGTCCTGCTTCGAT
TTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCACAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGC
TCCAGGTTCTACACCTCGGACCCCAGCCAGGCGTGCCTCTTTGTCCTGAGTCTGGATACTTTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGA
TCCAAAGTGCAGAGTCTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGGCCTGACTACACCGAGGACGTGGGGTTTGAC
ATCGGCCAGGCGATGCTGGCCAAAGCCAGCATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGATCATCCCAGGACAGGA
GGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGGAAGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGG
AATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCATGGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGAC
AACACCGAGTATGAGAAGTATGATTATCGGGAAATGCTGCACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGCAGGCTTGGGTCCTTCAGATTCCTGGAGGCT
TTGCAGGCTGCCTGCGTCCCTGTGATGCTCAGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATAGGCGATGAGAGATTG
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>EXT1|2131|protein
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFD
FTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFD
IGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRD
NTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPA
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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) 0 (0) 1 (2) 2 (2) 0 (0) 1 (1) 22 (6)
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