MOV10

Mov10 RISC complex RNA helicase, the group of UPF1 like RNA helicases

Basic information

Region (hg38): 1:112673141-112700756

Links

ENSG00000155363 ∙ NCBI:4343 ∙ OMIM:610742 ∙ HGNC:7200 ∙ Uniprot:Q9HCE1 ∙ 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 MOV10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOV10 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	5	6
missense			37	4		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	2	3
non coding						0
Total	0	0	37	5	5

Variants in MOV10

This is a list of pathogenic ClinVar variants found in the MOV10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-112674990-G-A			Benign (Dec 31, 2019)
1-112674995-T-G		not specified	Uncertain significance (Mar 11, 2024)
1-112675006-C-A		not specified	Uncertain significance (Jan 18, 2022)
1-112689032-C-G		not specified	Uncertain significance (May 01, 2023)
1-112689033-T-C		not specified	Uncertain significance (Oct 25, 2022)
1-112689081-T-C		not specified	Uncertain significance (Feb 28, 2023)
1-112689124-G-T		not specified	Uncertain significance (Feb 27, 2023)
1-112689441-G-A		not specified	Uncertain significance (Jun 10, 2022)
1-112689491-C-G		MOV10-related disorder	Likely benign (Nov 19, 2022)
1-112689498-G-A		not specified	Uncertain significance (Jun 29, 2023)
1-112689540-G-A		not specified	Uncertain significance (Dec 30, 2023)
1-112689610-C-T			Benign (Dec 31, 2019)
1-112689859-T-A		not specified	Uncertain significance (May 09, 2023)
1-112689962-A-C		not specified	Uncertain significance (May 24, 2023)
1-112689965-G-A		not specified	Uncertain significance (Jun 18, 2024)
1-112690036-G-A			Likely benign (Jun 26, 2018)
1-112690068-A-G		not specified	Likely benign (Jun 07, 2024)
1-112691697-C-T			Uncertain significance (Mar 01, 2021)
1-112691708-T-TA		MOV10-related disorder	Uncertain significance (Mar 22, 2024)
1-112691789-G-T		not specified	Uncertain significance (Mar 29, 2022)
1-112692874-C-T		not specified	Uncertain significance (Jul 11, 2023)
1-112692927-G-A		not specified	Uncertain significance (Jun 07, 2024)
1-112694012-C-T			Benign (Dec 31, 2019)
1-112694117-A-G		not specified	Uncertain significance (May 06, 2022)
1-112694553-C-T		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOV10	protein_coding	protein_coding	ENST00000413052	20	27606

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.809	0.191	125707	0	41	125748	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.76	414	605	0.684	0.0000375	6458
Missense in Polyphen		72	149.71	0.48092		1607
Synonymous	2.29	198	243	0.813	0.0000143	2075
Loss of Function	5.20	10	49.5	0.202	0.00000273	543

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000578	0.000456
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000163	0.000163
Finnish	0.0000988	0.0000924
European (Non-Finnish)	0.000198	0.000167
Middle Eastern	0.000163	0.000163
South Asian	0.000178	0.000163
Other	0.000348	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable RNA helicase. Required for miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA- mediated cleavage of complementary mRNAs by RISC. {ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:17507929, ECO:0000269|PubMed:22791714}.
• Pathway: miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;Oncogene Induced Senescence;Oxidative Stress Induced Senescence;Cellular Senescence;Cellular responses to stress;RNA Polymerase II Transcription;Pre-NOTCH Transcription and Translation;Pre-NOTCH Expression and Processing;Signaling by NOTCH;TP53 Regulates Metabolic Genes;Cellular responses to external stimuli;Regulation of PTEN mRNA translation;PTEN Regulation;PIP3 activates AKT signaling;Signaling by Nuclear Receptors;Transcriptional Regulation by TP53;Regulation of RUNX1 Expression and Activity;Estrogen-dependent gene expression;ESR-mediated signaling;Intracellular signaling by second messengers;Transcriptional regulation by RUNX1 (Consensus)

Recessive Scores

• pRec: 0.141

Intolerance Scores

• loftool: 0.0296
• rvis_EVS: -1.68
• rvis_percentile_EVS: 2.65

Haploinsufficiency Scores

• pHI: 0.253
• hipred: Y
• hipred_score: 0.736
• ghis: 0.611

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.887

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mov10
• 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: Wnt signaling pathway, calcium modulating pathway;negative regulation of transposition, RNA-mediated;positive regulation of gene expression;negative regulation of gene expression;posttranscriptional gene silencing by RNA;gene silencing by miRNA;mRNA cleavage involved in gene silencing by miRNA;regulation of megakaryocyte differentiation;positive regulation of mRNA catabolic process;3'-UTR-mediated mRNA destabilization;regulation of neuron projection arborization
• Cellular component: P-body;extracellular space;nucleus;cytosol;cytoplasmic ribonucleoprotein granule;P granule
• Molecular function: RNA binding;protein binding;ATP binding;ATP-dependent 5'-3' RNA helicase activity