AutismKB

Evidence Detail for SYN1


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Basic Information Top
Gene Symbol:SYN1 ( SYN1a,SYN1b,SYNI )
Gene Full Name: synapsin I
Band: Xp11.23
Quick LinksEntrez ID:6853; OMIM: 313440; Uniprot ID:SYN1_HUMAN; ENSEMBL ID: ENSG00000008056
Sequences Top
>SYN1|6853|nucleotide
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>SYN1|6853|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMEpilepsy, X-linked, with variable learning disabilities and behavior disorders (300491)
DescriptionX-linked epilepsy with variable learning disabilities and behavior disorders
Reference(s)14985377;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Fassio, 2011_2 mouse neurons--- genetics: mutation screen
  • Subjects: -
  • Normal Controls: -
  • Methods: PCR, direct sequencing
  • Evidence Details: This nonsense mutation was found in all affected individuals form a large French-Canadian family segregation epilepsy and ASDs. Additional mutations in SYN1 (A51G, A550T and T567A) were found in 1.0 and 3.5% of French-Canadian individuals with autism and epilepsy
Fassio, 2011_2 mouse neurons--- animal model
  • Subjects: -
  • Normal Controls: -
  • Methods: Knock-out mouse
  • Evidence Details: When expressed in synapsin I (SynI) knockout (KO) neurons, all the D-domain mutants failed in rescuing the impairment in the size and trafficking of synaptic vesicle pools, whereas the wild-type human SynI fully reverted the KO phenotype. Moreover, the nonsense Q555X mutation had a dramatic impact on phosphorylation by MAPK/Erk and neurite outgrowth, whereas the missense A550T and T567A mutants displayed impaired targeting to nerve terminals.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000714 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Edens, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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