Human Gene Module / Chromosome 6 / KIAA1586

KIAA1586KIAA1586

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
6 / 6
Rare Variants / Common Variants
14 / 0
Aliases
KIAA1586, FLJ30162
Associated Syndromes
-
Chromosome Band
6p12.1
Associated 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
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
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
2

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 criteria
2

Strong Candidate

See all Category 2 Genes

We 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
3
icon
2

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
3
icon
3

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).

Reports Added
[Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
4/1/2016
4
icon
3

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
No data
icon
4

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
No data
icon
4

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]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 1.7777713130497E-6

Ranking 14852/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.84276533777044

Ranking 3219/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Larsen Cumulative Evidence Score

Score 21

Ranking 97/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Original Source
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
P2RX2 P2X purinoceptor 2 Human Protein Binding 22953 Q9UBL9-2
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