AutismKB 2.0

Variant Details for SYNGAP1


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Basic Information Top
Gene Symbol:SYNGAP1 ( DKFZp761G1421,KIAA1938,MRD5,RASA1,RASA5,SYNGAP )
Gene Full Name: synaptic Ras GTPase activating protein 1
Band: 6p21.32
Quick LinksEntrez ID:8831; OMIM: 603384; Uniprot ID:SYGP1_HUMAN; ENSEMBL ID: ENSG00000197283; HGNC ID: 11497
Relate to Another Database: SFARIGene; denovo-db
Variant 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. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 3 16 0 2 0 0 21
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000818 6 6p21.32 33291871 33404064 112193 loss external link Pinto, 2010
AutCNV0000699 6 6p21 29792021 45092022 15300001 gain external link Berkel, 2010
AutCNV0004251 6 6p21.32 33291871 33404064 112193 loss external link Sanders, 2011
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
6 33391326 G A Sanger sequencingneutral0.2478 De Rubeis S, 2014
6 33405763 C T Sanger sequencing De Rubeis S, 2014
6 33408610 TC T Sanger sequencing De Rubeis S, 2014
6 33411228 C T Sanger sequencing De Rubeis S, 2014
6 33414451 GAACA G Sanger sequencing De Rubeis S, 2014
6 33403326 G A c.698G>A p.Cys233Tyr PCR and Sanger sequencing deleterious0.9946 O'Roak BJ, 2014
6 33399974 CA C c.333delA p.Lys114SerfsTer20 PCR and Sanger sequencing O'Roak BJ, 2014
6 33408650 CTT C c.1822_1823delTT p.Phe608TrpfsTer9 PCR and Sanger sequencing O'Roak BJ, 2014
6 33408610 TC T c.1782delC p.Leu595CysfsTer55 PCR and Sanger sequencing O'Roak BJ, 2014
6 33406690 - A Sanger sequencing Yuen RK, 2016
6 33406694 CTGGT - Sanger sequencing Yuen RK, 2016
6 33405522 C C/G c.840C>G p.Tyr280* Sanger sequencing Wang T, 2016
6 33408570 C T c.1741C>T p.R581W deleterious0.7943 Kimura Y, 2018
6 33409439 C T c.2197C>T p.Gln733* Sanger sequencing Takata A, 2018
0 c.3583-6G>A Bowling KM, 2017
6 33400477 C T C403T R135X Halvardson J, 2016
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
6 33411463 C G p.A1045G Yneutral0.1258 Brett M, 2014
6 33411159 G A/G Y Wang T, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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


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