MYO10

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

Basic information

Region (hg38): 5:16661906-16936288

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.

• Inborn genetic diseases (93 variants)
• not provided (24 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	10	14
missense			92	5	5	102
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	92	9	15

Variants in MYO10

This is a list of pathogenic ClinVar variants found in the MYO10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-16666709-G-T		not specified	Uncertain significance (Jan 31, 2022)
5-16666723-C-T		not specified	Uncertain significance (May 31, 2022)
5-16666777-T-C		not specified	Uncertain significance (Mar 02, 2023)
5-16668281-C-G			Benign (Dec 31, 2019)
5-16668309-C-T		not specified	Uncertain significance (Nov 09, 2023)
5-16668326-G-A		not specified	Uncertain significance (Sep 21, 2021)
5-16668420-C-T		not specified	Uncertain significance (Mar 08, 2024)
5-16670585-T-G		not specified	Uncertain significance (Feb 15, 2023)
5-16670607-C-A		not specified	Uncertain significance (Dec 16, 2023)
5-16670647-C-T		not specified	Uncertain significance (Dec 11, 2023)
5-16670656-G-A		not specified	Uncertain significance (Aug 28, 2023)
5-16670656-G-T		not specified	Uncertain significance (Sep 22, 2023)
5-16670711-G-A		not specified	Uncertain significance (Jan 31, 2022)
5-16670737-C-T		not specified	Uncertain significance (Dec 26, 2023)
5-16670764-G-T		not specified	Uncertain significance (Nov 29, 2023)
5-16670782-C-T		not specified	Uncertain significance (Dec 19, 2023)
5-16670827-T-C		not specified	Uncertain significance (Oct 05, 2023)
5-16670845-T-A		not specified	Uncertain significance (Nov 17, 2022)
5-16670858-G-A		not specified	Uncertain significance (Jun 10, 2022)
5-16670860-G-A		not specified	Uncertain significance (Apr 28, 2022)
5-16670881-G-A		Inborn genetic diseases	Uncertain significance (Feb 02, 2022)
5-16670930-G-A		not specified	Uncertain significance (Aug 08, 2023)
5-16670942-G-C		not specified	Uncertain significance (Mar 29, 2023)
5-16670944-G-A		not specified	Uncertain significance (Jan 26, 2023)
5-16670956-C-A		not specified	Uncertain significance (Oct 20, 2023)

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

• 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