AutismKB

Evidence Detail for MYOM2


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Basic Information Top
Gene Symbol:MYOM2 ( TTNAP )
Gene Full Name: myomesin (M-protein) 2, 165kDa
Band: 8p23.3
Quick LinksEntrez ID:9172; OMIM: 603509; Uniprot ID:MYOM2_HUMAN; ENSEMBL ID: ENSG00000036448
Sequences Top
>MYOM2|9172|nucleotide
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>MYOM2|9172|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) No 0 (0) 1 (1) 2 (5) 0 (0) 0 (0) 1 (1) 12 (2)
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
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.18 Up 0.129
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1716733
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000023 8 8p23.1-23.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000250 8 8p23.3-23.2 loss 3 - Overlapping/Recurrent CNVs; Yu, 2002
AutCNV0000264 8 8p21-23 gain 1 - CNVs Only Present In Patients; Papanikolaou, 2006
AutCNV0000271 8 8p23 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0003265 8 8p23.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003615 8 8p23.2-23.3 gain 1 - CNVs Only Present In Patients; Gai, 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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