GTF2Igeneral transcription factor IIi
Autism Reports / Total Reports
2 / 6Rare Variants / Common Variants
1 / 2Aliases
GTF2I, WBS, DIWS, SPIN, IB291, BAP135, BTKAP1, TFII-I, WBSCR6, GTFII-I, FLJ38776Associated Syndromes
Williams syndromeChromosome Band
7q11.23Associated Disorders
-Relevance to Autism
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
Molecular Function
A multifunctional phosphoprotein with roles in transcription and signal transduction.
Reports related to GTF2I (6 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 | Hirota H , et al. (2003) | No | - |
2 | Highly Cited | GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region | Morris CA , et al. (2003) | No | - |
3 | Recent Recommendation | Expression of the transcription factor, TFII-I, during post-implantation mouse embryonic development | Fijalkowska I , et al. (2010) | No | - |
4 | Recent Recommendation | An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain | Poitras L , et al. (2010) | No | - |
5 | Primary | Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders | Malenfant P , et al. (2011) | Yes | - |
6 | Support | Autism risk in offspring can be assessed through quantification of male sperm mosaicism | Breuss MW , et al. (2019) | Yes | - |
Rare Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.427C>T | p.Arg143Ter | stop_gained | De novo | NA | Simplex | 31873310 | Breuss MW , et al. (2019) |
Common Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.-6+14101A>G;c.-6+14101G>A;c.10+13152A>G | A/G | intron_variant | - | - | - | 22048961 | Malenfant P , et al. (2011) | |
c.-5-8738G>T;c.-5-8738T>G;c.11-8738G>T;c.-6+1165G>T | - | intron_variant | - | - | - | 22048961 | Malenfant P , et al. (2011) |
SFARI Gene score
Strong Candidate


Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Initial score established: 2
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2021
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2021
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2021
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
1/1/2021
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2020
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2020
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2020
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
1/1/2020
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2019
Initial score established: 3
New Scoring Scheme
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
Reports Added
[New Scoring Scheme]7/1/2019
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2019
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
1/1/2019
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2018
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2018
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2018
Initial score established: 4.3
Description
4
1/1/2018
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2017
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2017
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2017
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
1/1/2017
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2016
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2016
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2016
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
1/1/2016
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2015
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2015
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2015
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
1/1/2015
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
10/1/2014
Initial score established: 3
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
7/1/2014
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
4/1/2014
Initial score established: 4
Description
Genetic association of common variants in the GTF2I gene have been associated with autism (Malenfant et al., 2011). In addition, rare variants in the region surrounding GTF2I may be associated with Williams syndrome (Morris et al., 2003).
Krishnan Probability Score
Score 0.49343047536835
Ranking 4159/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.99934868993106
Ranking 986/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.9418698504808
Ranking 15093/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 2
Ranking 390/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.029761750774249
Ranking 7790/20870 scored genes
[Show Scoring Methodology]
CNVs associated with GTF2I(1 CNVs)
Sort By:
7q11.23 | 70 | Deletion-Duplication | 98 / 420 |
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
CYP1A1 | Cytochrome P450 1A1 | Human | Protein Binding | 1543 | P04798 |
DPY30 | dpy-30 homolog (C. elegans) | Human | Protein Binding | 84661 | Q9C005 |
FBXO6 | F-box only protein 6 | Human | Protein Binding | 26270 | Q9NRD1 |
GTF2IRD2B | General transcription factor II-I repeat domain-containing protein 2B | Human | Protein Binding | 389524 | Q6EKJ0 |
LGALS3 | Galectin-3 | Human | Protein Binding | 3958 | P17931 |
MAGEA1 | melanoma antigen family A, 1 (directs expression of antigen MZ2-E) | Human | Protein Binding | 4100 | P43355 |
METTL1 | tRNA (guanine-N(7)-)-methyltransferase | Human | Protein Binding | 4234 | Q9UBP6 |
NFI1 | Baker's yeast | Protein Binding | NA | ||
POU2AF1 | POU domain class 2-associating factor 1 | Human | Protein Binding | 5450 | Q16633 |
PTP4A3 | Protein tyrosine phosphatase type IVA 3 | Human | Protein Binding | 11156 | O75365 |
SOST | Sclerostin | Human | Protein Binding | 50964 | Q9BQB4 |