ADSS2adenylosuccinate synthase 2
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
2 / 0Aliases
ADSS2, ADEH, ADSS, ADSS 2Associated Syndromes
-Chromosome Band
1q44Associated Disorders
-Relevance to Autism
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate.
External Links
SFARI Genomic Platforms
Reports related to ADSS2 (3 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 | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder | Tammimies K , et al. (2015) | Yes | - |
| 3 | Recent Recommendation | Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism | Du Y , et al. (2019) | Yes | - |
Rare Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.664-1G>T | p.? | splice_site_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) | |
| c.527G>A | p.Arg176Gln | missense_variant | De novo | - | - | 26325558 | Tammimies K , et al. (2015) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Score Delta: Score remained at 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.
4/1/2022
Decreased from 3 to 2
Description
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Reports Added
[New Scoring Scheme]7/1/2019
Increased from to 4
Description
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).