MYH4Myosin, heavy chain 4, skeletal muscle
Autism Reports / Total Reports
6 / 7Rare Variants / Common Variants
10 / 0Aliases
MYH4, MYH2B, MyHC-2B, MyHC-IIbAssociated Syndromes
Tourette syndromeChromosome Band
17p13.1Associated Disorders
-Relevance to Autism
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Molecular Function
Gene product involved muscle contraction
External Links
SFARI Genomic Platforms
Reports related to MYH4 (7 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | A discovery resource of rare copy number variations in individuals with autism spectrum disorder | Prasad A , et al. (2013) | Yes | - |
| 2 | Support | Genome-wide characteristics of de novo mutations in autism | Yuen RK et al. (2016) | Yes | - |
| 3 | Positive Association | De Novo Coding Variants Are Strongly Associated with Tourette Disorder | Willsey AJ , et al. (2017) | No | - |
| 4 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
| 5 | Support | Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort | Wu H , et al. (2019) | Yes | Macrocephaly |
| 6 | Support | - | Zhou X et al. (2022) | Yes | - |
| 7 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (10)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | Familial | Maternal | Simplex | 23275889 | Prasad A , et al. (2013) | |
| c.3595A>G | p.Lys1199Glu | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| - | - | copy_number_loss | Familial | Maternal | Multiplex | 23275889 | Prasad A , et al. (2013) | |
| c.4951C>T | p.Gln1651Ter | stop_gained | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
| c.533+1G>C | - | splice_site_variant | Familial | Paternal | Simplex | 31674007 | Wu H , et al. (2019) | |
| c.3595A>G | p.Lys1199Glu | missense_variant | De novo | - | Simplex | 27525107 | Yuen RK et al. (2016) | |
| c.4109G>C | p.Ser1370Thr | missense_variant | De novo | - | Simplex | 28472652 | Willsey AJ , et al. (2017) | |
| c.3348+1G>T | - | splice_site_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
| c.3348+1G>T | - | splice_site_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
| c.1531dup | p.Trp511LeufsTer5 | frameshift_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
2
Strong Candidate
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
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 novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
10/1/2019
4
3
Decreased from 4 to 3
New Scoring Scheme
Description
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
7/1/2019
4
4
Decreased from 4 to 4
Description
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
4/1/2017
4
4
Decreased from 4 to 4
Description
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
7/1/2016
4
4
Decreased from 4 to 4
Description
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
7/1/2015
4
Increased from to 4
Description
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Krishnan Probability Score
Score 0.45747136814236
Ranking 9766/25841 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 8.8149213458824E-35
Ranking 18183/18225 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 0.95049326600726
Ranking 18514/18665 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).
Zhang D Score
Score -0.15861887566291
Ranking 14387/20870 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.