MYO16

myosin XVI, the group of Myosin heavy chains, class XVI|Protein phosphatase 1 regulatory subunits|Ankyrin repeat domain containing

Basic information

Region (hg38): 13:108596152-109208005

Links

ENSG00000041515

∙ NCBI:23026 ∙ OMIM:615479 ∙ HGNC:29822 ∙ Uniprot:Q9Y6X6 ∙ 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 MYO16 gene.

not_specified (270 variants)
not_provided (53 variants)
MYO16-related_disorder (44 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
Prostate_cancer (1 variants)
MYO16-associated_developmental_delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO16 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001198950.3. 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				23 clinvar	18 clinvar	41
missense		1 clinvar	252 clinvar	25 clinvar	8 clinvar	286
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	1	253	48	26

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO16	protein_coding	protein_coding	ENST00000356711	34	611856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00149	125710	0	38	125748	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	917	1.01e+3	0.909	0.0000576	12060
Missense in Polyphen		267	377.53	0.70723		4647
Synonymous	-0.143	429	425	1.01	0.0000279	3597
Loss of Function	7.20	16	89.5	0.179	0.00000485	1061

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000241
Ashkenazi Jewish	0.00	0.00
East Asian	0.000376	0.000326
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000163	0.000158
Middle Eastern	0.000376	0.000326
South Asian	0.0000654	0.0000653
Other	0.000531	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0927

Intolerance Scores

loftool: 0.234
rvis_EVS: 0.06
rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

pHI: 0.365
hipred: Y
hipred_score: 0.639
ghis: 0.443

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.186

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Myo16
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);

Gene ontology

Biological process: negative regulation of cell population proliferation;cerebellum development;negative regulation of G1/S transition of mitotic cell cycle
Cellular component: nucleoplasm;cytoplasm;plasma membrane;myosin complex;perinuclear region of cytoplasm
Molecular function: motor activity;protein binding;ATP binding;actin filament binding