KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
3 / 2Aliases
KRR1, HRB2, RIP-1Associated Syndromes
-Chromosome Band
12q21.2Associated Disorders
-Relevance to Autism
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
Molecular Function
The protein encoded by the KRR1 gene is required for 40S ribosome biogenesis and is involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly.
External Links
SFARI Genomic Platforms
Reports related to KRR1 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population | Kuo PH , et al. (2015) | Yes | - |
2 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (3)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.661-2_661-1insTTTA | - | splice_site_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.567_568del | p.Val190PhefsTer7 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.939_940insGAGA | p.Gln314GlufsTer13 | frameshift_variant | De novo | - | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.1004-383A>G | - | intron_variant | - | - | - | 26398136 | Kuo PH , et al. (2015) | |
c.*2336A>G | - | 500B_downstream_variant | - | - | - | 26398136 | Kuo PH , et al. (2015) |
SFARI Gene score
Strong Candidate
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
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
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
Reports Added
[New Scoring Scheme]7/1/2019
Decreased from 4 to 4
Description
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
10/1/2015
Increased from to 4
Description
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
Krishnan Probability Score
Score 0.49301633971064
Ranking 4319/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.019350580570581
Ranking 9442/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.81642131247998
Ranking 2527/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.46561355194256
Ranking 784/20870 scored genes
[Show Scoring Methodology]