MYO10

myosin X, the group of Myosin heavy chains, class X|Pleckstrin homology domain containing|FERM domain containing

Basic information

Region (hg38): 5:16661907-16936288

Links

ENSG00000145555

∙ NCBI:4651 ∙ OMIM:601481 ∙ HGNC:7593 ∙ Uniprot:Q9HD67 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO10 gene.

not_specified (297 variants)
not_provided (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012334.3. 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				6 clinvar	11 clinvar	17
missense			290 clinvar	9 clinvar	5 clinvar	304
nonsense						0
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)						0
Total	0	1	290	15	16

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO10	protein_coding	protein_coding	ENST00000513610	41	270978

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000316	1.00	124592	0	70	124662	0.000281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.62	1027	1.18e+3	0.868	0.0000744	13551
Missense in Polyphen		517	636.29	0.81252		7455
Synonymous	-1.54	541	497	1.09	0.0000348	3793
Loss of Function	7.17	32	115	0.278	0.00000646	1292

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000569	0.000549
Ashkenazi Jewish	0.00	0.00
East Asian	0.000390	0.000389
Finnish	0.000233	0.000232
European (Non-Finnish)	0.000322	0.000319
Middle Eastern	0.000390	0.000389
South Asian	0.000203	0.000196
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons it induces the formation of dendritic filopodia by trafficking the actin-remodeling protein VASP to the tips of filopodia, where it promotes actin elongation. Plays a role in formation of the podosome belt in osteoclasts. {ECO:0000269|PubMed:16894163, ECO:0000269|PubMed:18570893}.;
Pathway: Fc gamma R-mediated phagocytosis - Homo sapiens (human);miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Developmental Biology;Fcgamma receptor (FCGR) dependent phagocytosis;Innate Immune System;Immune System;Regulation of actin dynamics for phagocytic cup formation;Netrin-1 signaling;Axon guidance;Netrin-mediated signaling events (Consensus)

Recessive Scores

pRec: 0.203

Intolerance Scores

loftool
rvis_EVS: -1.61
rvis_percentile_EVS: 2.97

Haploinsufficiency Scores

pHI: 0.454
hipred: N
hipred_score: 0.492
ghis: 0.523

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: H
gene_indispensability_pred: E
gene_indispensability_score: 0.735

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Myo10
Phenotype: craniofacial 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; pigmentation 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); limbs/digits/tail phenotype; vision/eye phenotype; immune system phenotype; skeleton phenotype; embryo phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); hematopoietic system phenotype;

Gene ontology

Biological process: regulation of cell shape;positive regulation of cell-cell adhesion;cytoskeleton-dependent intracellular transport;Fc-gamma receptor signaling pathway involved in phagocytosis;regulation of filopodium assembly
Cellular component: ruffle;nucleolus;cytosol;plasma membrane;cell cortex;myosin complex;lamellipodium;filopodium membrane;filopodium tip;neuron projection;neuronal cell body
Molecular function: motor activity;protein binding;calmodulin binding;ATP binding;phosphatidylinositol-3,4,5-trisphosphate binding;spectrin binding;actin-dependent ATPase activity;actin filament binding;plus-end directed microfilament motor activity