AutismKB 2.0

Variant Details for TTN


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Basic Information Top
Gene Symbol:TTN ( CMD1G,CMH9,CMPD4,DKFZp451N061,EOMFC,FLJ26020,FLJ26409,FLJ32040,FLJ34413,FLJ39564,FLJ43066,HMERF,LGMD2J,TMD )
Gene Full Name: titin
Band: 2q31.2
Quick LinksEntrez ID:7273; OMIM: 188840; Uniprot ID:Q4ZG20_HUMAN; ENSEMBL ID: ENSG00000155657; HGNC ID: 12403
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 2 14 2 0 0 1 19
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000830 2 2q31.2 179443217 179547860 104643 loss external link Pinto, 2010
AutCNV0004211 2 2q31.2 179443217 179547860 104643 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
2 179437710 Sanger sequencing O'Roak BJ, 2011
2 179436520 C Y Sanger sequencing O'Roak BJ, 2012
2 179447820 G T PCR and MiSeqneutral0.0112 Iossifov I, 2012
2 179434864 C T Sanger sequencing deleterious0.533 De Rubeis S, 2014
2 179435034 A G Sanger sequencing De Rubeis S, 2014
2 179439424 C A Sanger sequencingneutral0.041 De Rubeis S, 2014
2 179575512 G A Sanger sequencing De Rubeis S, 2014
2 179582496 C T Sanger sequencingneutral0.1735 De Rubeis S, 2014
2 179584745 C T Sanger sequencing deleterious0.4944 De Rubeis S, 2014
2 179634424 C G Sanger sequencing deleterious0.9743 De Rubeis S, 2014
2 179641336 C T Sanger sequencingneutral0.2519 De Rubeis S, 2014
2 179425280 C T PCR or Sanger sequencing deleterious0.6359 Iossifov I, 2014
2 179486354 C G PCR or Sanger sequencing deleterious0.4944 Iossifov I, 2014
2 179428473 C T c.82386G>A p.Thr27462Thr Not_tested Takata A, 2018
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
2 179396737 C T mosaic PASM Dou Y, 2017
2 179605302 G T Mosaic Krupp DR, 2017
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
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
AutLD0000076 2q31.1-31.3 2 D2S2314/D2S2310 2.54 - - Lamb, 2005




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  (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


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