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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018