MYO1B

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

Basic information

Region (hg38): 2:191245185-191425389

Links

ENSG00000128641

∙ NCBI:4430 ∙ OMIM:606537 ∙ HGNC:7596 ∙ Uniprot:O43795 ∙ 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 MYO1B gene.

not_specified (105 variants)
not_provided (4 variants)
Colorectal_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130158.3. 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					3 clinvar	3
missense			104 clinvar	1 clinvar	1 clinvar	106
nonsense						0
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	104	1	4

Highest pathogenic variant AF is 6.997333e-7

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1B	protein_coding	protein_coding	ENST00000392318	30	180205

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000724	1.00	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.43	446	616	0.724	0.0000332	7515
Missense in Polyphen		168	259.8	0.64665		3214
Synonymous	-0.403	227	219	1.03	0.0000118	2050
Loss of Function	5.54	22	73.1	0.301	0.00000410	848

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000361	0.000361
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000283	0.000281
Middle Eastern	0.000164	0.000163
South Asian	0.0000981	0.0000980
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport. {ECO:0000250}.;

Recessive Scores

pRec: 0.142

Intolerance Scores

loftool: 0.0721
rvis_EVS: -1.22
rvis_percentile_EVS: 5.67

Haploinsufficiency Scores

pHI: 0.164
hipred: Y
hipred_score: 0.614
ghis: 0.572

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.899

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Myo1b
Phenotype

Zebrafish Information Network

Gene name: myo1b
Affected structure: anterior axial hypoblast
Phenotype tag: abnormal
Phenotype quality: increased amount

Gene ontology

Biological process: post-Golgi vesicle-mediated transport;actin filament organization;actin filament-based movement;actin filament bundle assembly
Cellular component: cytoplasm;early endosome;actin filament;plasma membrane;brush border;endosome membrane;myosin complex;filopodium;trans-Golgi network membrane;apical part of cell;perinuclear region of cytoplasm;extracellular exosome;cell periphery
Molecular function: microfilament motor activity;calmodulin binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;actin-dependent ATPase activity;cadherin binding;actin filament binding