Evidence Detail for GTF2I

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Basic Information Top
Gene Full Name: general transcription factor IIi
Band: 7q11.23
Quick LinksEntrez ID:2969; OMIM: 601679; Uniprot ID:GTF2I_HUMAN; ENSEMBL ID: ENSG00000077809
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 (5) 0 (0) 1 (2) 1 (1) 12 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Sakurai, 2010_1 mouse ---- animal model
  • Subjects: -
  • Normal Controls: -
  • Methods: qPCR, behavioral analyses
  • Evidence Details: We found that homozygous deletion of Gtf2i causes lethality during embryonic development with neural tube closure defects and exencephaly, consistent with other reports. Gtf2i heterozygous animals show no gross changes in brain structure or development. Furthermore, heterozygous animals show no alterations in learning and memory, including spatial memory as assessed by the Morris water maze, but show alterations in the recognition of novel objects. Interestingly, they show increased social interaction with unfamiliar mice and do not show typical social habituation processes, reminiscent of the hypersociability observed in WBS patients. The mice do not appear to show increased anxiety, supporting a specific effect of Gtf2i on defined domains of the WBS phenotype
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000132 7 7q11 loss 1 - Denovo CNVs; Jacquemont, 2006
AutCNV0000257 7 7q11.23 gain 1 - Denovo CNVs; Depienne, 2007
AutCNV0003814 7 7q11.23 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003815 7 7q11.23 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004261 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004262 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004263 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004264 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 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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