GIGYF2GRB10 interacting GYF protein 2
Autism Reports / Total Reports
9 / 9Rare Variants / Common Variants
26 / 0Aliases
GIGYF2, GYF2, PARK11, PERQ2, PERQ3, TNRC15Associated Syndromes
-Chromosome Band
2q37.1Associated Disorders
-Relevance to Autism
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease.
External Links
SFARI Genomic Platforms
Reports related to GIGYF2 (9 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
2 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
3 | Support | Excess of rare, inherited truncating mutations in autism | Krumm N , et al. (2015) | Yes | - |
4 | Recent Recommendation | Low load for disruptive mutations in autism genes and their biased transmission | Iossifov I , et al. (2015) | Yes | - |
5 | Support | De novo genic mutations among a Chinese autism spectrum disorder cohort | Wang T , et al. (2016) | Yes | - |
6 | Support | Association of rare missense variants in the second intracellular loop of Na V 1.7 sodium channels with familial autism | Rubinstein M , et al. (2016) | Yes | - |
7 | Support | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | Lim ET , et al. (2017) | Yes | - |
8 | Support | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | Wang T et al. (2020) | Yes | - |
9 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (26)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.817C>T | p.Arg273Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.958G>T | p.Gly320Cys | stop_gained | De novo | - | - | 27824329 | Wang T , et al. (2016) | |
c.101C>T | p.Pro34Leu | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.493G>T | p.Gly165Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.502C>T | p.Arg168Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.689G>T | p.Arg230Ile | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.821G>A | p.Arg274His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.971C>T | p.Ser324Leu | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1450C>T | p.Arg484Trp | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1592A>G | p.Glu531Gly | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.1637C>T | p.Ser546Leu | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2935C>T | p.Arg979Trp | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2071A>G | p.Ile691Val | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2828C>T | p.Thr943Met | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2211A>G | p.Leu737%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2416C>T | p.Arg806Ter | stop_gained | De novo | - | Multiplex | 28714951 | Lim ET , et al. (2017) | |
c.1990C>T | p.Gln664Ter | stop_gained | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.149C>T | p.Ala50Val | missense_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.2116G>A | p.Val706Met | missense_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.2116G>A | p.Val706Met | missense_variant | Familial | Paternal | - | 33004838 | Wang T et al. (2020) | |
c.3527C>G | p.Pro1176Arg | missense_variant | De novo | - | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.2867G>A | p.Arg956Gln | missense_variant | Unknown | Not maternal | - | 27824329 | Wang T , et al. (2016) | |
c.2930G>A | p.Arg977Gln | missense_variant | De novo | - | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.149C>T | p.Ala50Val | missense_variant | Familial | Maternal | Simplex | 33004838 | Wang T et al. (2020) | |
c.3042_3053del | p.Lys1015_Gln1018del | inframe_deletion | Unknown | Not maternal | - | 27824329 | Wang T , et al. (2016) | |
c.3669G>C | p.Gln1223His | missense_variant | Familial | - | Extended multiplex | 27956748 | Rubinstein M , et al. (2016) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence
Score Delta: Score remained at 1
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.
10/1/2020
Score remained at 1
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015). A second de novo loss-of-function (LoF) variant in GIGYF2 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. A de novo postzygotic mosaic nonsense variant in GIGYF2 was identified in an ASD proband in Lim et al., 2017, bringing the total of de novo LoF variants in GIGYF2 to three.
10/1/2019
Decreased from 2 to 1
New Scoring Scheme
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015). A second de novo loss-of-function (LoF) variant in GIGYF2 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. A de novo postzygotic mosaic nonsense variant in GIGYF2 was identified in an ASD proband in Lim et al., 2017, bringing the total of de novo LoF variants in GIGYF2 to three.
Reports Added
[New Scoring Scheme]7/1/2017
Decreased from 2 to 2
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015). A second de novo loss-of-function (LoF) variant in GIGYF2 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. A de novo postzygotic mosaic nonsense variant in GIGYF2 was identified in an ASD proband in Lim et al., 2017, bringing the total of de novo LoF variants in GIGYF2 to three.
1/1/2017
Decreased from 2 to 2
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015). A fourth de novo LoF variant in GIGYF2 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.
10/1/2016
Decreased from 3 to 2
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015). A fourth de novo LoF variant in GIGYF2 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.
1/1/2016
Decreased from 3 to 3
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Reports Added
[Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Excess of rare, inherited truncating mutations in autism.2015] [The contribution of de novo coding mutations to autism spectrum disorder2014] [Low load for disruptive mutations in autism genes and their biased transmission.2015]7/1/2015
Increased from to 3
Description
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Krishnan Probability Score
Score 0.49228277258555
Ranking 4627/25841 scored genes
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ExAC Score
Score 0.99999999997935
Ranking 53/18225 scored genes
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Iossifov Probability Score
Score 0.948
Ranking 84/239 scored genes
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Sanders TADA Score
Score 0.25896648523786
Ranking 149/18665 scored genes
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Zhang D Score
Score 0.34279934511242
Ranking 2107/20870 scored genes
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