Evidence Detail 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
Quick LinksEntrez ID:7273; OMIM: 188840; Uniprot ID:Q4ZG20_HUMAN; ENSEMBL ID: ENSG00000155657
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) No 0 (0) 0 (0) 1 (2) 1 (1) 0 (0) 2 (2) 17 (3)
Syndromic Autism Gene Top
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
O'Roak, 2011_1 human whole-bloodautism genetics: mutation screen
  • Subjects: 19 SSCs and 1 SAGE
  • Normal Controls: 20
  • Methods: whole genome exome sequencing by Illumina Genome Analyzer Iix with single or paired-end 76-bp reads
  • Evidence Details: De novo synonymous mutaion event was found in hg18 Chr2:179,145,956
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000830 2 2q31.2 loss 1 - DeNovo Pinto, 2010
AutCNV0004211 2 2q31.2 loss 1 - DeNovo Sanders, 2011
Linkage Studies 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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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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