KIAA1586KIAA1586
Autism Reports / Total Reports
6 / 6Rare Variants / Common Variants
14 / 0Aliases
KIAA1586, FLJ30162Associated Syndromes
-Chromosome Band
6p12.1Associated Disorders
-Relevance to Autism
Rare variants in the KIAA1586 gene have been identified with autism (Bucan et al., 2009; ORoak et al., 2012).
Molecular Function
Unknown
External Links
SFARI Genomic Platforms
Reports related to KIAA1586 (6 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes | Bucan M , et al. (2009) | Yes | - |
2 | Support | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations | O'Roak BJ , et al. (2012) | Yes | - |
3 | Support | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder | Girirajan S , et al. (2013) | Yes | - |
4 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
5 | Support | - | Zhou X et al. (2022) | Yes | - |
6 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (14)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | - | - | Multiplex | 19557195 | Bucan M , et al. (2009) | |
- | - | copy_number_gain | Unknown | - | Simplex | 23375656 | Girirajan S , et al. (2013) | |
c.2014C>T | p.Arg672Trp | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
- | - | copy_number_loss | Familial | Paternal | Simplex | 22495309 | O'Roak BJ , et al. (2012) | |
- | - | copy_number_gain | Familial | Paternal | Simplex | 23375656 | Girirajan S , et al. (2013) | |
- | - | copy_number_loss | Familial | Maternal | Simplex | 23375656 | Girirajan S , et al. (2013) | |
- | - | copy_number_loss | Familial | Paternal | Simplex | 23375656 | Girirajan S , et al. (2013) | |
- | - | copy_number_gain | Familial | Paternal | Multiplex | 23375656 | Girirajan S , et al. (2013) | |
- | - | copy_number_loss | Familial | Maternal | Multiplex | 23375656 | Girirajan S , et al. (2013) | |
c.1448dup | p.Tyr483Ter | frameshift_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.878del | p.Glu293GlyfsTer11 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.619del | p.Ile207LeufsTer17 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.1705del | p.Ile569LeufsTer13 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.391_392insCC | p.Leu131ProfsTer25 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Rare deletions involving the KIAA1586 gene were observed with five cases with autism in Bucan et al., 2009, whereas no deletions in this gene were observed in 2539 controls (combined P-value 0.012). KIAA1586 were found to be enriched for exon-disrupting CNVs in a case-control analysis in Girirajan et al., 2013 (8 exon-disrupting CNVs in 2,588 cases compared to 2 exon-disrupting CNVs in 2670 controls; P=0.049).
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.
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
Rare deletions involving the KIAA1586 gene were observed with five cases with autism in Bucan et al., 2009, whereas no deletions in this gene were observed in 2539 controls (combined P-value 0.012). KIAA1586 were found to be enriched for exon-disrupting CNVs in a case-control analysis in Girirajan et al., 2013 (8 exon-disrupting CNVs in 2,588 cases compared to 2 exon-disrupting CNVs in 2670 controls; P=0.049).
Reports Added
[New Scoring Scheme]7/1/2019
Decreased from 3 to 3
Description
Rare deletions involving the KIAA1586 gene were observed with five cases with autism in Bucan et al., 2009, whereas no deletions in this gene were observed in 2539 controls (combined P-value 0.012). KIAA1586 were found to be enriched for exon-disrupting CNVs in a case-control analysis in Girirajan et al., 2013 (8 exon-disrupting CNVs in 2,588 cases compared to 2 exon-disrupting CNVs in 2670 controls; P=0.049).
4/1/2016
Decreased from 4 to 3
Description
Rare deletions involving the KIAA1586 gene were observed with five cases with autism in Bucan et al., 2009, whereas no deletions in this gene were observed in 2539 controls (combined P-value 0.012). KIAA1586 were found to be enriched for exon-disrupting CNVs in a case-control analysis in Girirajan et al., 2013 (8 exon-disrupting CNVs in 2,588 cases compared to 2 exon-disrupting CNVs in 2670 controls; P=0.049).
7/1/2014
Increased from No data to 4
Description
Rare CNVs in the KIAA1586 gene have been observed with autism (Bucan et al., 2009).
4/1/2014
Increased from No data to 4
Description
Rare CNVs in the KIAA1586 gene have been observed with autism (Bucan et al., 2009).
Krishnan Probability Score
Score 0.44557867449749
Ranking 15334/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 1.7777713130497E-6
Ranking 14852/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.84276533777044
Ranking 3219/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 21
Ranking 97/461 scored genes
[Show Scoring Methodology]
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
P2RX2 | P2X purinoceptor 2 | Human | Protein Binding | 22953 | Q9UBL9-2 |