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Relevance to Autism

A cross-trait meta-analysis of genome-wide association studies on schizophrenia (65,967 cases), bipolar disorder (41,653 cases), autism spectrum disorder (46,350 cases), ADHD (55,374 cases) and depression (688,809 cases) identified an intronic SNP in the GALNT10 gene that reached genome-wide significance for ASD following MTAG analysis (P-value 1.09E-08) (Wu et al., 2020). Another intronic SNP in this gene (rs11740474) has been previously shown to reach genome-wide significance for association with schizophrenia in multiple meta-analyses (Schizophrenia Working Group of the Psychiatric Genomics Consortium, 2014; Li et al., 2017; Ikeda et al., 2019). Two SNPs in GALNT10, including rs11740474, reached genome-wide significance following a combined meta-analysis of GWAS data from the ASD and schizophrenia cohorts of the Psychiatric Genomics Consortium (The Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium 2017).

Molecular Function

This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Multi-trait analysis for genome-wide association study of five psychiatric disorders
ASD
Positive Association
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect
SCZ
Positive Association
Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia
SCZ
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD, SCZ
Positive Association
Biological insights from 108 schizophrenia-associated genetic loci.
SCZ
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Integrating de novo and inherited variants in 42
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1194R001 
 splice_site_variant 
 c.1387-1G>A 
  
 Unknown 
  
  
 GEN1194R002 
 synonymous_variant 
 c.828C>T 
 p.Tyr276%3D 
 De novo 
  
  
 GEN1194R003 
 missense_variant 
 c.970G>A 
 p.Val324Met 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN1194C001 
 intron_variant 
 rs34509057 
 c.159+30677G>A 
  
 46,350 ASD cases, 65,967 schizophrenia cases, 41,653 bipolar disorder cases, 55,374 ADHD cases, and 688,809 cases with depression 
 Discovery 
 GEN1194C002 
 intron_variant 
 rs11740474 
 c.401+3108A>T 
  
 7,387 ASD cases and 8,567 controls from the Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, in addition to 36,989 schizophrenia cases and 113,075 controls from Schizophrenia Working Group of the Psychiatric Genomics Consortium 
 Discovery 
 GEN1194C003 
 intron_variant 
 rs2434529 
 c.160-34330A>G 
  
 7,387 ASD cases and 8,567 controls from the Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, in addition to 36,989 schizophrenia cases and 113,075 controls from Schizophrenia Working Group of the Psychiatric Genomics Consortium 
 Discovery 
 GEN1194C004 
 intron_variant 
 rs11740474 
 c.401+3108A>T 
  
 36,989 schizophrenia cases and 113,075 controls from Schizophrenia Working Group of the Psychiatric Genomics Consortium 
 Discovery 
 GEN1194C005 
 intron_variant 
 rs11740474 
 c.401+3108A>T 
  
 Discovery cohort: 7,699 Chinese ancestry cases and 35,476 European ancestry cases, as well as 18,327 Chinese ancestry controls and 46,839 European ancestry controls; Replication cohort: 4,384 Chinese ancestry cases and 5,770 Chinese ancestry controls 
 Replication 
 GEN1194C006 
 intron_variant 
 rs11740474 
 c.401+3108A>T 
  
 Discovery cohort: 14,023 East Asian ancestry cases and 33,640 European ancestry cases, 31,505 East Asian ancestry controls and 43,456 European ancestry controls 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
Duplication
 1
 
5
Deletion
 1
 
5
Duplication
 1
 
5
Duplication
 1
 
5
Deletion
 1
 

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