AutismKB 2.0

Evidence Details for XYLT1


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Basic Information Top
Gene Symbol:XYLT1 ( PXYLT1,XT-I,XT1,XTI,XYLTI )
Gene Full Name: xylosyltransferase I
Band: 16p12.3
Quick LinksEntrez ID:64131; OMIM: 608124; Uniprot ID:XYLT1_HUMAN; ENSEMBL ID: ENSG00000103489; HGNC ID: 15516
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XYLT1|64131|nucleotide
ATGGTGGCGGCGCCGTGCGCCCGGAGGCTGGCCCGGCGCTCGCACTCGGCGCTGCTCGCGGCGCTCACGGTGCTGCTGCTGCAGACGCTGGTCGTGTGGAATTTC
AGCAGCCTCGACTCCGGGGCCGGGGAGCGCCGCGGGGGCGCAGCGGTCGGCGGCGGGGAGCAGCCGCCCCCGGCCCCGGCCCCGCGCCGGGAGCGCCGGGACCTG
CCCGCCGAGCCGGCTGCAGCCCGAGGAGGAGGAGGAGGCGGCGGCGGAGGAGGAGGAGGACGGGGGCCCCAGGCGCGGGCGCGGGGAGGCGGCCCCGGAGAACCG
CGGGGACAGCAGCCGGCCAGCCGGGGGGCACTGCCCGCCCGGGCTCTGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGATGGCTACTTTTCTCAT
CGGCCGAAAGAGAAAGTGCGAACAGACAGCAACAACGAGAACTCTGTCCCCAAAGACTTTGAGAATGTCGACAACAGCAACTTCGCACCCAGGACTCAAAAGCAG
AAGCACCAGCCTGAGTTGGCGAAGAAGCCACCGAGTAGACAGAAGGAGCTTTTGAAAAGGAAGCTGGAACAGCAGGAGAAAGGAAAAGGACATACATTCCCTGGG
AAAGGCCCCGGTGAGGTGCTGCCTCCCGGGGACAGAGCCGCAGCCAACAGCAGCCACGGGAAGGATGTGTCCAGACCGCCTCATGCCAGGAAAACTGGGGGCAGC
TCCCCCGAGACCAAGTATGACCAGCCCCCTAAGTGTGACATCTCAGGCAAGGAGGCCATCTCTGCCCTGTCCCGTGCTAAGTCCAAGCACTGCCGCCAGGAGATT
GGGGAGACTTACTGCCGCCACAAGTTAGGGCTGCTGATGCCTGAGAAGGTGACTCGGTTCTGCCCCCTCGAGGGTAAAGCCAACAAGAACGTGCAGTGGGACGAG
GACTCCGTGGAGTACATGCCAGCCAACCCGGTCAGAATCGCCTTTGTCCTGGTGGTCCACGGCCGTGCCTCTCGGCAGTTGCAGCGCATGTTCAAGGCCATCTAC
CACAAAGACCACTTCTACTACATCCACGTGGACAAGCGCTCTAATTACCTGCATCGGCAAGTGCTCCAGGTCTCCAGGCAGTACAGCAATGTCCGCGTCACCCCC
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>XYLT1|64131|protein
MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPAPAPRRERRDLPAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEP
RGQQPASRGALPARALDPHPSPLITLETQDGYFSHRPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPELAKKPPSRQKELLKRKLEQQEKGKGHTFPG
KGPGEVLPPGDRAAANSSHGKDVSRPPHARKTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRFCPLEGKANKNVQWDE
DSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIYHKDHFYYIHVDKRSNYLHRQVLQVSRQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFI
NLSAADYPIRTNDQLVAFLSRYRDMNFLKSHGRDNARFIRKQGLDRLFLECDAHMWRLGDRRIPEGIAVDGGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTL
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 12 (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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top