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
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Evidence Statistic Top

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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.
OMIMEpilepsy, X-linked, with variable learning disabilities and behavior disorders (300491)
DescriptionX-linked epilepsy with variable learning disabilities and behavior disorders
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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