AutismKB

Evidence Detail for SEC22C


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Basic Information Top
Gene Symbol:SEC22C ( DKFZp761F2321,MGC13261,MGC5373,SEC22L3 )
Gene Full Name: SEC22 vesicle trafficking protein homolog C (S. cerevisiae)
Band: 3p22.1
Quick LinksEntrez ID:9117; OMIM: 604028; Uniprot ID:SC22C_HUMAN; ENSEMBL ID: ENSG00000093183
Sequences Top
>SEC22C|9117|nucleotide
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>SEC22C|9117|protein
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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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 8 (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
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 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
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.578 Up 0.0403
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 225460_at
  • RefSeq_ID/ EST: BG432489
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
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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