AutismKB

Evidence Detail for C16orf68


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Basic Information Top
Gene Symbol:C16orf68 ( FLJ12433,MGC2654 )
Gene Full Name: chromosome 16 open reading frame 68
Band: 16p13.2
Quick LinksEntrez ID:79091; OMIM: ; Uniprot ID:CP068_HUMAN; ENSEMBL ID: ENSG00000067365
Sequences Top
>C16orf68|79091|nucleotide
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>C16orf68|79091|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 2 (2) 0 (0) 1 (3) 2 (4) 0 (0) 0 (0) 16 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Wang, 2009_1 Discovery 1 (detail) 780 1299
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery 1 (detail) 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000741 16 16p13.2 gain 1 - paternal Bremer, 2011
AutCNV0002897 16 16p13.2 loss 1 - maternal Pinto, 2010
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000005 16p13.2 16 ATA41E04 1.64 - - McCauley, 2005
AutLD0000026 16p13.2 16 D16S407 1.28 - - Bailey, 1998
AutLD0000037 16p13.2 16 D16S407 1.59 - - Monaco, 2001
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004

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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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