Human Gene Module / Chromosome 2 / GIGYF2

GIGYF2GRB10 interacting GYF protein 2

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
6 / 6
Rare Variants / Common Variants
7 / 0
Aliases
GIGYF2, GYF2,  PARK11,  PERQ2,  PERQ3,  TNRC15
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
2q37.1
Associated 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.

Reports related to GIGYF2 (6 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 NaV1.7 sodium channels with familial autism. Rubinstein M , et al. (2016) Yes -
Rare Variants   (7)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2930G>A p.Arg977Gln missense_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.1990C>T p.Gln664Ter stop_gained De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.3527C>G p.Pro1176Arg missense_variant De novo - Simplex 25961944 Krumm N , et al. (2015)
c.958G>T p.Glu320Ter stop_gained De novo - - 27824329 Wang T , et al. (2016)
c.3102_3113del p.Ser1035_His1038del inframe_deletion Unknown Not maternal - 27824329 Wang T , et al. (2016)
c.2867G>A p.Arg956Gln missense_variant Unknown Not maternal - 27824329 Wang T , et al. (2016)
c.3651G>C p.Gln1217His missense_variant Familial - Extended multiplex 27956748 Rubinstein M , et al. (2016)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

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.

2

Strong Candidate

See all Category 2 Genes

We 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.

04-01-2017
2

Initial score established: 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.

CNVs associated with GIGYF2(1 CNVs)
2q37.1 18 Deletion-Duplication 34  /  96
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