MYOZ1

myozenin 1, the group of Myozenins

Basic information

Region (hg38): 10:73631612-73641474

Previous symbols: [ "MYOZ" ]

Links

ENSG00000177791

∙ NCBI:58529 ∙ OMIM:605603 ∙ HGNC:13752 ∙ Uniprot:Q9NP98 ∙ 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 MYOZ1 gene.

not_specified (38 variants)
not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOZ1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021245.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			39 clinvar	3 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	5	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOZ1	protein_coding	protein_coding	ENST00000359322	5	10104

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000179	0.701	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0450	170	172	0.990	0.00000895	1935
Missense in Polyphen		73	71.365	1.0229		759
Synonymous	0.606	64	70.5	0.908	0.00000402	616
Loss of Function	1.02	9	13.0	0.695	6.98e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000326	0.000326
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.000435	0.000435
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.;

Recessive Scores

pRec: 0.114

Intolerance Scores

loftool: 0.486
rvis_EVS: -0.63
rvis_percentile_EVS: 17.03

Haploinsufficiency Scores

pHI: 0.412
hipred: N
hipred_score: 0.468
ghis: 0.593

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.554

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Myoz1
Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; limbs/digits/tail phenotype; muscle phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype;

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;skeletal muscle tissue development;myofibril assembly;negative regulation of phosphoprotein phosphatase activity;negative regulation of skeletal muscle tissue regeneration;skeletal muscle fiber adaptation;sarcomere organization;negative regulation of calcineurin-NFAT signaling cascade
Cellular component: nucleus;actin cytoskeleton;Z disc;pseudopodium
Molecular function: actin binding;protein serine/threonine phosphatase inhibitor activity;protein binding;telethonin binding;FATZ binding