MRTO4

MRT4 homolog, ribosome maturation factor, the group of Ribosomal biogenesis factors

Basic information

Region (hg38): 1:19251805-19260128

Previous symbols: [ "C1orf33" ]

Links

ENSG00000053372 ∙ NCBI:51154 ∙ ∙ HGNC:18477 ∙ Uniprot:Q9UKD2 ∙ 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 MRTO4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRTO4 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						0
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in MRTO4

This is a list of pathogenic ClinVar variants found in the MRTO4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-19251843-A-G		not specified	Uncertain significance (May 05, 2023)
1-19251858-A-C		not specified	Uncertain significance (Dec 15, 2023)
1-19254829-C-G		not specified	Uncertain significance (Feb 19, 2025)
1-19255978-C-A		not specified	Uncertain significance (Jul 14, 2022)
1-19256011-A-C		not specified	Uncertain significance (Nov 19, 2024)
1-19256035-G-A		not specified	Uncertain significance (Sep 01, 2021)
1-19257092-A-G		not specified	Uncertain significance (Apr 20, 2023)
1-19257125-T-C		not specified	Uncertain significance (Feb 18, 2025)
1-19257136-C-A		not specified	Uncertain significance (Dec 03, 2024)
1-19257479-T-C		not specified	Uncertain significance (Jan 29, 2024)
1-19257499-C-A		not specified	Uncertain significance (Mar 08, 2024)
1-19257835-G-C		not specified	Uncertain significance (Jul 12, 2022)
1-19257859-A-G		not specified	Uncertain significance (Dec 06, 2024)
1-19257868-G-T		not specified	Uncertain significance (Sep 14, 2023)
1-19257905-T-A		not specified	Uncertain significance (Nov 16, 2021)
1-19257958-T-C		not specified	Uncertain significance (Dec 19, 2022)
1-19258483-T-C		not specified	Uncertain significance (Apr 12, 2023)
1-19258516-A-G		not specified	Uncertain significance (Sep 30, 2024)
1-19258521-G-A		not specified	Uncertain significance (Feb 10, 2025)
1-19258540-A-C		not specified	Uncertain significance (Nov 29, 2023)
1-19258541-G-T		not specified	Uncertain significance (Nov 29, 2023)
1-19258685-T-A		not specified	Uncertain significance (Dec 31, 2024)
1-19258752-G-T		not specified	Uncertain significance (Mar 06, 2025)
1-19258760-A-G		not specified	Uncertain significance (Jun 22, 2023)
1-19258796-C-T		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRTO4	protein_coding	protein_coding	ENST00000330263	8	8590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.986	0.0137	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0369	139	138	1.01	0.00000766	1574
Missense in Polyphen		22	27.211	0.8085		405
Synonymous	-0.0894	53	52.2	1.02	0.00000310	422
Loss of Function	3.34	0	13.0	0.00	6.35e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes. {ECO:0000269|PubMed:20083226}.

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.0598
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.37

Haploinsufficiency Scores

• pHI: 0.260
• hipred: Y
• hipred_score: 0.783
• ghis: 0.623

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrto4

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process;rRNA processing
• Cellular component: nucleolus;cytoplasm
• Molecular function: RNA binding;protein binding