MYO16myosin XVI
Autism Reports / Total Reports
5 / 10Rare Variants / Common Variants
8 / 10Aliases
MYO16, RP11-54H7.1, KIAA0865, MYR8, Myo16bAssociated Syndromes
-Chromosome Band
13q33.3Associated Disorders
-Relevance to Autism
Genetic association has been found between the MYO16 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
motor protein, actin binding
External Links
SFARI Genomic Platforms
Reports related to MYO16 (10 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Highly Cited | Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1 | Patel KG , et al. (2001) | No | - |
| 2 | Recent Recommendation | Myosin16b: The COOH-tail region directs localization to the nucleus and overexpression delays S-phase progression | Cameron RS , et al. (2006) | No | - |
| 3 | Primary | Common genetic variants on 5p14.1 associate with autism spectrum disorders | Wang K , et al. (2009) | Yes | - |
| 4 | Positive Association | A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale | Connolly JJ , et al. (2012) | Yes | - |
| 5 | Support | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders | Kenny EM , et al. (2013) | Yes | - |
| 6 | Support | Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability | Lelieveld SH et al. (2016) | No | - |
| 7 | Support | Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment | Chen XS , et al. (2017) | No | - |
| 8 | Recent Recommendation | Myosin XVI Regulates Actin Cytoskeleton Dynamics in Dendritic Spines of Purkinje Cells and Affects Presynaptic Organization | Roesler MK , et al. (2019) | No | - |
| 9 | Support | - | Zhou X et al. (2022) | Yes | - |
| 10 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (8)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.1161C>T | p.Ser387%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1879C>T | p.Gln627Ter | stop_gained | Unknown | - | Unknown | 24126926 | Kenny EM , et al. (2013) | |
| c.2453A>G | p.Asn818Ser | missense_variant | De novo | - | - | 27479843 | Lelieveld SH et al. (2016) | |
| c.4213G>C | p.Ala1405Pro | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.3206C>G | p.Ser1069Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
| c.5515C>T | p.Gln1839Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
| c.2228-1G>A | - | splice_site_variant | Familial | Maternal | Possibly multi-generational | 28440294 | Chen XS , et al. (2017) | |
| c.2122G>A | p.Ala708Thr | missense_variant | Familial | Paternal | Possibly multi-generational | 28440294 | Chen XS , et al. (2017) |
Common Variants (10)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | C/T | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | N/A | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | T/C | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | - | intergenic_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) | |
| - | A to C | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | A to G | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | G to A | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | C/A | downstream_gene_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | T/C | downstream_gene_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | - | downstream_gene_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) |
SFARI Gene score
2
Strong Candidate
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
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
3
2
Decreased from 3 to 2
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
10/1/2019
4
3
Decreased from 4 to 3
New Scoring Scheme
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
Reports Added
[New Scoring Scheme]7/1/2019
4
4
Decreased from 4 to 4
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
4/1/2017
4
4
Decreased from 4 to 4
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
Reports Added
[Common genetic variants on 5p14.1 associate with autism spectrum disorders.2009] [A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...2012] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1.2001] [Myosin16b: The COOH-tail region directs localization to the nucleus and overexpression delays S-phase progression.2006] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016] [Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.2017]7/1/2016
4
4
Decreased from 4 to 4
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
7/1/2014
No data
4
Increased from No data to 4
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
4/1/2014
No data
4
Increased from No data to 4
Description
A single, unreplicated association of a common SNP has been reported by Wang et al., 2009 (PMID: 19404256).
Krishnan Probability Score
Score 0.60196109059927
Ranking 386/25841 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 0.9986672458659
Ranking 1141/18225 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 0.94977269696399
Ranking 18226/18665 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).
Larsen Cumulative Evidence Score
Score 46.5
Ranking 39/461 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.
Zhang D Score
Score 0.34909043279801
Ranking 2022/20870 scored genes
[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures),
or D score, was developed to combine evidence from de novo loss-of- function mutation with
evidence from cell-type- specific gene expression in the mouse brain (specifically translational
profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with
positive D scores are more likely to be associated with autism risk, with higher-confidence genes
having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204-
215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in
supplementary table 2 from that paper.