MYO1F

myosin IF, the group of Myosin heavy chains, class I

Basic information

Region (hg38): 19:8517463-8577442

Links

ENSG00000142347 ∙ NCBI:4542 ∙ OMIM:601480 ∙ HGNC:7600 ∙ Uniprot:O00160 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• nonsyndromic genetic hearing loss (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO1F gene.

• not_specified (172 variants)
• not_provided (93 variants)
• MYO1F-related_disorder (26 variants)
• Bilateral_sensorineural_hearing_impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1F gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012335.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				28	9	37
missense			152	19	3	174
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	153	47	12

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1F	protein_coding	protein_coding	ENST00000338257	28	56788

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.37e-7	1.00	125247	0	69	125316	0.000275

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	582	714	0.815	0.0000502	7206
Missense in Polyphen		154	235.27	0.65458		2421
Synonymous	-0.122	297	294	1.01	0.0000224	2121
Loss of Function	4.84	24	66.6	0.360	0.00000404	671

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000316	0.000311
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000164
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000447	0.000441
Middle Eastern	0.000167	0.000164
South Asian	0.000197	0.000196
Other	0.00	0.00

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 (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.201

Intolerance Scores

• loftool: 0.114
• rvis_EVS: -1.83
• rvis_percentile_EVS: 2.12

Haploinsufficiency Scores

• pHI: 0.371
• hipred: Y
• hipred_score: 0.637
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.939

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Myo1f
• Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: unconventional myosin complex
• Molecular function: motor activity;actin binding;calmodulin binding;ATP binding