Evidence Details for XYLT1
Basic Information Top
Gene Symbol: | XYLT1 ( PXYLT1,XT-I,XT1,XTI,XYLTI ) |
---|---|
Gene Full Name: | xylosyltransferase I |
Band: | 16p12.3 |
Quick Links | Entrez 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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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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MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPAPAPRRERRDLPAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEP
RGQQPASRGALPARALDPHPSPLITLETQDGYFSHRPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPELAKKPPSRQKELLKRKLEQQEKGKGHTFPG
KGPGEVLPPGDRAAANSSHGKDVSRPPHARKTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRFCPLEGKANKNVQWDE
DSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIYHKDHFYYIHVDKRSNYLHRQVLQVSRQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFI
NLSAADYPIRTNDQLVAFLSRYRDMNFLKSHGRDNARFIRKQGLDRLFLECDAHMWRLGDRRIPEGIAVDGGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTL
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 screen | autism | 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
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