Human Gene Module / Chromosome 17 / ABCA10

ABCA10ATP-binding cassette, sub-family A (ABC1), member 10

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
5 / 0
Aliases
ABCA10, EST698739
Associated Syndromes
-
Chromosome Band
17q24.3
Associated Disorders
-
Relevance to Autism

A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).

Molecular Function

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. The probable transporter encoded by this gene may play a role in macrophage lipid homeostasis.

SFARI Genomic Platforms
Reports related to ABCA10 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders Lim ET , et al. (2013) Yes -
2 Support - Zhou X et al. (2022) Yes -
3 Support - Cirnigliaro M et al. (2023) Yes -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.3145T>A p.Ser1049Thr missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.393T>C p.Ile131%3D synonymous_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.3964C>T p.Arg1322Ter stop_gained Familial Both parents Multiplex 23352160 Lim ET , et al. (2013)
c.2836del p.Val946PhefsTer7 frameshift_variant Familial Maternal Multiplex 37506195 Cirnigliaro M et al. (2023)
c.3795_3813del p.Gln1266Ter frameshift_variant Familial Paternal Multiplex 37506195 Cirnigliaro M et al. (2023)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).

Score Delta: Score remained at 2

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.

4/1/2022
3
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2

Decreased from 3 to 2

Description

A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).

10/1/2019
4
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3

Decreased from 4 to 3

New Scoring Scheme
Description

A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).

Reports Added
[New Scoring Scheme]
7/1/2015
icon
4

Increased from to 4

Description

A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).

Krishnan Probability Score

Score 0.452888819844

Ranking 10401/25841 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.
ExAC Score

Score 1.2068864366045E-27

Ranking 18131/18225 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
Sanders TADA Score

Score 0.94683339126876

Ranking 17030/18665 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).
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