Evidence Details for SYT17
Basic Information Top
Gene Symbol: | SYT17 ( - ) |
---|---|
Gene Full Name: | synaptotagmin XVII |
Band: | 16p12.3 |
Quick Links | Entrez ID:51760; OMIM: NA; Uniprot ID:SYT17_HUMAN; ENSEMBL ID: ENSG00000103528; HGNC ID: 24119 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SYT17|51760|nucleotide
ATGGCGTACATCCAGTTGGAACCATTAAACGAGGGTTTTCTTTCTAGAATCTCTGGTCTGCTGCTGTGCAGATGGACCTGCCGGCACTGCTGTCAGAAGTGCTAC
GAGTCCAGCTGTTGCCAGTCAAGTGAGGATGAAGTTGAAATTCTGGGACCTTTCCCTGCTCAGACCCCTCCCTGGCTGATGGCCAGCCGGAGCAGTGACAAGGAT
GGTGACTCTGTCCACACGGCCAGCGAAGTCCCGCTGACCCCACGGACCAATTCCCCGGATGGAAGACGCTCGTCCTCAGACACATCCAAGTCTACATACAGCCTG
ACGCGGAGGATTTCGAGTCTTGAGTCAAGACGTCCCAGCTCTCCACTCATCGATATTAAACCCATCGAGTTTGGCGTTCTCAGCGCCAAGAAGGAGCCCATCCAA
CCTTCGGTGCTCAGACGGACCTATAACCCCGACGACTATTTCAGGAAGTTCGAACCCCACCTGTACTCCCTCGACTCCAACAGCGACGATGTGGACTCTCTGACA
GACGAGGAGATCCTGTCCAAGTACCAGCTGGGCATGCTGCACTTCAGCACTCAGTACGACCTGCTGCACAACCACCTCACCGTGCGCGTGATCGAGGCCAGGGAC
CTGCCACCTCCCATCTCCCACGATGGCTCGCGCCAGGACATGGCGCACTCCAACCCCTACGTCAAGATCTGTCTCCTGCCAGACCAGAAGAACTCAAAGCAGACC
GGGGTCAAACGCAAGACCCAGAAGCCCGTGTTTGAGGAGCGCTACACCTTCGAGATCCCCTTCCTGGAGGCCCAGAGGAGGACCCTGCTCCTGACCGTGGTGGAT
TTTGATAAGTTCTCCCGCCACTGTGTCATTGGGAAAGTTTCTGTGCCTTTGTGTGAAGTTGACCTGGTCAAGGGCGGGCACTGGTGGAAGGCGCTGATTCCCAGT
TCTCAGAATGAAGTGGAGCTGGGGGAGCTGCTTCTGTCACTGAATTATCTCCCAAGTGCTGGCAGACTGAATGTTGATGTCATTCGAGCCAAGCAACTTCTTCAG
ACAGATGTGAGCCAAGGTTCAGACCCCTTTGTGAAAATCCAGCTGGTGCATGGACTCAAACTTGTGAAAACCAAGAAGACGTCCTTCTTAAGGGGCACAATTGAT
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ATGGCGTACATCCAGTTGGAACCATTAAACGAGGGTTTTCTTTCTAGAATCTCTGGTCTGCTGCTGTGCAGATGGACCTGCCGGCACTGCTGTCAGAAGTGCTAC
GAGTCCAGCTGTTGCCAGTCAAGTGAGGATGAAGTTGAAATTCTGGGACCTTTCCCTGCTCAGACCCCTCCCTGGCTGATGGCCAGCCGGAGCAGTGACAAGGAT
GGTGACTCTGTCCACACGGCCAGCGAAGTCCCGCTGACCCCACGGACCAATTCCCCGGATGGAAGACGCTCGTCCTCAGACACATCCAAGTCTACATACAGCCTG
ACGCGGAGGATTTCGAGTCTTGAGTCAAGACGTCCCAGCTCTCCACTCATCGATATTAAACCCATCGAGTTTGGCGTTCTCAGCGCCAAGAAGGAGCCCATCCAA
CCTTCGGTGCTCAGACGGACCTATAACCCCGACGACTATTTCAGGAAGTTCGAACCCCACCTGTACTCCCTCGACTCCAACAGCGACGATGTGGACTCTCTGACA
GACGAGGAGATCCTGTCCAAGTACCAGCTGGGCATGCTGCACTTCAGCACTCAGTACGACCTGCTGCACAACCACCTCACCGTGCGCGTGATCGAGGCCAGGGAC
CTGCCACCTCCCATCTCCCACGATGGCTCGCGCCAGGACATGGCGCACTCCAACCCCTACGTCAAGATCTGTCTCCTGCCAGACCAGAAGAACTCAAAGCAGACC
GGGGTCAAACGCAAGACCCAGAAGCCCGTGTTTGAGGAGCGCTACACCTTCGAGATCCCCTTCCTGGAGGCCCAGAGGAGGACCCTGCTCCTGACCGTGGTGGAT
TTTGATAAGTTCTCCCGCCACTGTGTCATTGGGAAAGTTTCTGTGCCTTTGTGTGAAGTTGACCTGGTCAAGGGCGGGCACTGGTGGAAGGCGCTGATTCCCAGT
TCTCAGAATGAAGTGGAGCTGGGGGAGCTGCTTCTGTCACTGAATTATCTCCCAAGTGCTGGCAGACTGAATGTTGATGTCATTCGAGCCAAGCAACTTCTTCAG
ACAGATGTGAGCCAAGGTTCAGACCCCTTTGTGAAAATCCAGCTGGTGCATGGACTCAAACTTGTGAAAACCAAGAAGACGTCCTTCTTAAGGGGCACAATTGAT
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>SYT17|51760|protein
MAYIQLEPLNEGFLSRISGLLLCRWTCRHCCQKCYESSCCQSSEDEVEILGPFPAQTPPWLMASRSSDKDGDSVHTASEVPLTPRTNSPDGRRSSSDTSKSTYSL
TRRISSLESRRPSSPLIDIKPIEFGVLSAKKEPIQPSVLRRTYNPDDYFRKFEPHLYSLDSNSDDVDSLTDEEILSKYQLGMLHFSTQYDLLHNHLTVRVIEARD
LPPPISHDGSRQDMAHSNPYVKICLLPDQKNSKQTGVKRKTQKPVFEERYTFEIPFLEAQRRTLLLTVVDFDKFSRHCVIGKVSVPLCEVDLVKGGHWWKALIPS
SQNEVELGELLLSLNYLPSAGRLNVDVIRAKQLLQTDVSQGSDPFVKIQLVHGLKLVKTKKTSFLRGTIDPFYNESFSFKVPQEELENASLVFTVFGHNMKSSND
FIGRIVIGQYSSGPSETNHWRRMLNTHRTAVEQWHSLRSRAECDRVSPASLEVT
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MAYIQLEPLNEGFLSRISGLLLCRWTCRHCCQKCYESSCCQSSEDEVEILGPFPAQTPPWLMASRSSDKDGDSVHTASEVPLTPRTNSPDGRRSSSDTSKSTYSL
TRRISSLESRRPSSPLIDIKPIEFGVLSAKKEPIQPSVLRRTYNPDDYFRKFEPHLYSLDSNSDDVDSLTDEEILSKYQLGMLHFSTQYDLLHNHLTVRVIEARD
LPPPISHDGSRQDMAHSNPYVKICLLPDQKNSKQTGVKRKTQKPVFEERYTFEIPFLEAQRRTLLLTVVDFDKFSRHCVIGKVSVPLCEVDLVKGGHWWKALIPS
SQNEVELGELLLSLNYLPSAGRLNVDVIRAKQLLQTDVSQGSDPFVKIQLVHGLKLVKTKKTSFLRGTIDPFYNESFSFKVPQEELENASLVFTVFGHNMKSSND
FIGRIVIGQYSSGPSETNHWRRMLNTHRTAVEQWHSLRSRAECDRVSPASLEVT
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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 | 2 (2) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 10 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Wang, 2009_1 | Discovery | Illumina HumanHap550 BeadChip | 780 | 1299 (-) | ASD | - - |
- - |
Case Control Based Association Studies: 1
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
CAUCASIAN | ||||||||||||
Wang, 2009_2 | Discovery | Illumina HumanHap550 BeadChip | 1204 (-) | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - |
CNV Studies Top
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
Family Based Association Studies: 1
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Philippi, 2005_1 | AGRE | SNPlex, ABI 3730, the GeneMapper software(Applied Biosystems, Foster City) | 116 | - (-) | AD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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