GeneBe

MYO1C

myosin IC, the group of Myosin heavy chains, class I|B-WICH chromatin-remodelling complex subunits

Basic information

Region (hg38): 17:1464186-1492686

Links

ENSG00000197879 ∙ NCBI:4641 ∙ OMIM:606538 ∙ HGNC:7597 ∙ Uniprot:O00159 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • autosomal dominant nonsyndromic hearing loss (Supportive), mode of inheritance: AD
  • autosomal dominant nonsyndromic hearing loss (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO1C gene.

  • not_specified (178 variants)
  • not_provided (86 variants)
  • MYO1C-related_disorder (20 variants)
  • Meniere_disease (7 variants)
  • Anophthalmia-microphthalmia_syndrome (1 variants)
  • Miller_Dieker_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1C gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080779.2. 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
30
clinvar
5
clinvar
 35
missense
166
clinvar
12
clinvar
6
clinvar
 184
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 167 42 11
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MYO1Cprotein_codingprotein_codingENST00000359786 3228715
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.64e-141.001256720761257480.000302
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6377036571.070.00004836858
Missense in Polyphen276259.21.06482704
Synonymous-3.633522751.280.00002032087
Loss of Function3.703466.60.5110.00000387702

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008230.000815
Ashkenazi Jewish0.0004960.000496
East Asian0.0002740.000272
Finnish0.0001570.000139
European (Non-Finnish)0.0002860.000281
Middle Eastern0.0002740.000272
South Asian0.0003660.000327
Other0.0004900.000489

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. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes. {ECO:0000269|PubMed:24636949}.;
Pathway
Insulin Signaling;B-WICH complex positively regulates rRNA expression;Positive epigenetic regulation of rRNA expression;Epigenetic regulation of gene expression;Gene expression (Transcription);Vesicle-mediated transport;Membrane Trafficking;Translocation of GLUT4 to the plasma membrane (Consensus)

Recessive Scores

pRec
0.212

Intolerance Scores

loftool
0.0331
rvis_EVS
-1.11
rvis_percentile_EVS
6.63

Haploinsufficiency Scores

pHI
0.248
hipred
Y
hipred_score
0.637
ghis
0.544

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.724

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Myo1c
Phenotype
skeleton phenotype; hearing/vestibular/ear 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); hematopoietic system phenotype;

Zebrafish Information Network

Gene name
myo1cb
Affected structure
pronephric glomerular basement membrane
Phenotype tag
abnormal
Phenotype quality
increased thickness

Gene ontology

Biological process
protein targeting;protein targeting to membrane;vesicle transport along actin filament;positive regulation of cell migration;positive regulation of actin filament polymerization;positive regulation of cell migration by vascular endothelial growth factor signaling pathway;Fc-gamma receptor signaling pathway involved in phagocytosis;positive regulation of gene expression, epigenetic;mRNA transport;cellular response to interferon-gamma;positive regulation of protein targeting to membrane;positive regulation of cellular response to insulin stimulus;positive regulation of vascular endothelial growth factor signaling pathway;regulation of bicellular tight junction assembly
Cellular component
stress fiber;nuclear pore;nucleoplasm;nucleolus;cytoplasm;cytosol;plasma membrane;microvillus;brush border;basal plasma membrane;membrane;lateral plasma membrane;unconventional myosin complex;nuclear body;cytoplasmic vesicle membrane;filamentous actin;ruffle membrane;membrane raft;phagocytic vesicle;stereocilium membrane;extracellular exosome
Molecular function
microfilament motor activity;signaling receptor binding;protein binding;calmodulin binding;ATP binding;protein C-terminus binding;Ral GTPase binding;actin-dependent ATPase activity;actin filament binding