GALNT8polypeptide N-acetylgalactosaminyltransferase 8
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
3 / 0Aliases
GALNT8, GALNAC-T8Associated Syndromes
-Chromosome Band
12p13.32Associated Disorders
-Relevance to Autism
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
Molecular Function
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins.
Reports related to GALNT8 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights | Kushima I , et al. (2018) | Yes | - |
2 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
Rare Variants (3)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | Unknown | - | - | 30208311 | Kushima I , et al. (2018) | |
c.74del | p.Leu25ArgfsTer25 | frameshift_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.366dup | p.Gln123ThrfsTer12 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
Score Delta: Decreased from 3 to 2
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.
10/1/2021

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
7/1/2021

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
4/1/2021

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
1/1/2021

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
10/1/2020

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
7/1/2020

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
4/1/2020

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
1/1/2020

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
10/1/2019

Decreased from 3 to 2
New Scoring Scheme
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
4/1/2019

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
1/1/2019

Decreased from 3 to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
10/1/2018

Increased from to 2
Description
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
Krishnan Probability Score
Score 0.49267850123774
Ranking 4445/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 1.8745242004629E-10
Ranking 16852/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.69303113366049
Ranking 1114/18665 scored genes
[Show Scoring Methodology]