MYO16
Basic information
Region (hg38): 13:108596152-109208005
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | 18 | 41 | |||
missense | 252 | 25 | 286 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
Total | 0 | 1 | 253 | 48 | 26 |
GnomAD
Source:
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:
- 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