MYH10
myosin heavy chain 10, the group of Myosin heavy chains, class II
Basic information
Region (hg38): 17:8474207-8631376
Links
Phenotypes
GenCC
Source:
- MYH10-related neurodevelopmental disorder with congenital anomalies (Moderate), mode of inheritance: AD
- coloboma (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn_genetic_diseases (153 variants)
- not_provided (123 variants)
- MYH10-related_disorder (28 variants)
- See_cases (4 variants)
- Jaw-winking_syndrome (3 variants)
- not_specified (3 variants)
- Congenital_fibrosis_of_extraocular_muscles (2 variants)
- Neurodevelopmental_disorder (1 variants)
- Congenital_ocular_coloboma (1 variants)
- Congenital_ptosis (1 variants)
- Autism_spectrum_disorder (1 variants)
- Wide_nose (1 variants)
- Epicanthus_inversus (1 variants)
- Complex_neurodevelopmental_disorders (1 variants)
- MYH10-related_neurodevelopmental_disorder_with_congenital_anomalies (1 variants)
- Abnormal_facial_shape (1 variants)
- Midface_retrusion (1 variants)
- MYH10-related_neurodevelopmental_disorder (1 variants)
- Neurodevelopmental_abnormality (1 variants)
- Hypertelorism (1 variants)
- Complex_neurodevelopmental_disorder_with_or_without_congenital_anomalies (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001256012.3. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 13 | 20 | ||||
| missense | 237 | 251 | ||||
| nonsense | 10 | |||||
| start loss | 0 | |||||
| frameshift | 7 | |||||
| splice donor/acceptor (+/-2bp) | 5 | |||||
| Total | 3 | 8 | 256 | 17 | 9 |
Highest pathogenic variant AF is 6.840516e-7
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MYH10 | protein_coding | protein_coding | ENST00000360416 | 42 | 156557 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 9.44e-11 | 125726 | 0 | 22 | 125748 | 0.0000875 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 5.01 | 671 | 1.15e+3 | 0.584 | 0.0000717 | 13235 |
| Missense in Polyphen | 256 | 531.13 | 0.48199 | 6267 | ||
| Synonymous | 1.19 | 408 | 440 | 0.928 | 0.0000272 | 3701 |
| Loss of Function | 8.96 | 12 | 116 | 0.103 | 0.00000629 | 1366 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000344 | 0.0000344 |
| Ashkenazi Jewish | 0.000398 | 0.000397 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.000115 | 0.000114 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9. {ECO:0000269|PubMed:20052411, ECO:0000269|PubMed:20603131}.;
- Disease
- DISEASE: Note=Associated with severe intellectual disability, microcephaly, and feeding difficulties as well as cerebral atrophy. {ECO:0000269|PubMed:25003005, ECO:0000269|PubMed:25356899}.;
- Pathway
- Salmonella infection - Homo sapiens (human);Tight junction - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Regulation of Actin Cytoskeleton;Developmental Biology;Signal Transduction;EPH-Ephrin signaling;EPHA-mediated growth cone collapse;RHO GTPases Activate ROCKs;RHO GTPases activate PAKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;Semaphorin interactions;Axon guidance
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- -2.08
- rvis_percentile_EVS
- 1.6
Haploinsufficiency Scores
- pHI
- 0.847
- hipred
- Y
- hipred_score
- 0.782
- ghis
- 0.580
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.946
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Myh10
- Phenotype
- liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype; muscle phenotype;
Zebrafish Information Network
- Gene name
- myh10
- Affected structure
- post-vent region
- Phenotype tag
- abnormal
- Phenotype quality
- curved
Gene ontology
- Biological process
- mitotic cytokinesis;in utero embryonic development;neuron migration;plasma membrane repair;cardiac septum development;exocytosis;substrate-dependent cell migration, cell extension;nuclear migration;cell adhesion;axon guidance;adult heart development;cell population proliferation;regulation of cell shape;fourth ventricle development;lateral ventricle development;third ventricle development;cerebellar Purkinje cell layer development;actin filament-based movement;actomyosin structure organization;aorta development;positive regulation of protein secretion;neuromuscular process controlling balance;cardiac myofibril assembly;ventricular cardiac muscle cell development;retina development in camera-type eye;coronary vasculature development;modification of postsynaptic actin cytoskeleton;postsynaptic actin cytoskeleton organization
- Cellular component
- stress fiber;nucleus;cytoplasm;spindle;cytosol;polysome;brush border;cell cortex;myosin complex;myosin II complex;lamellipodium;growth cone;midbody;neuromuscular junction;cleavage furrow;actomyosin;neuronal cell body;dendritic spine;extracellular exosome;myosin II filament;glutamatergic synapse
- Molecular function
- microfilament motor activity;actin binding;protein binding;calmodulin binding;ATP binding;ATPase activity;actin-dependent ATPase activity;RNA stem-loop binding;ADP binding;mRNA 5'-UTR binding;actin filament binding