AutismKB 2.0

Evidence Details for SYT17


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Basic Information Top
Gene Symbol:SYT17 ( - )
Gene Full Name: synaptotagmin XVII
Band: 16p12.3
Quick LinksEntrez 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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>SYT17|51760|protein
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 screenautism 158 - 158 - 333 - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
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

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