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

ENSG00000041515NCBI:23026OMIM:615479HGNC:29822Uniprot:Q9Y6X6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
MYO16protein_codingprotein_codingENST00000356711 34611856
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9990.001491257100381257480.000151
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.039171.01e+30.9090.000057612060
Missense in Polyphen267377.530.707234647
Synonymous-0.1434294251.010.00002793597
Loss of Function7.201689.50.1790.000004851061

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002420.000241
Ashkenazi Jewish0.000.00
East Asian0.0003760.000326
Finnish0.0001390.000139
European (Non-Finnish)0.0001630.000158
Middle Eastern0.0003760.000326
South Asian0.00006540.0000653
Other0.0005310.000489

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

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