MRO

maestro, the group of Maestro heat like repeat containing

Basic information

Region (hg38): 18:50795120-50825402

Previous symbols: [ "C18orf3" ]

Links

ENSG00000134042 ∙ NCBI:83876 ∙ OMIM:608080 ∙ HGNC:24121 ∙ Uniprot:Q9BYG7 ∙ 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 MRO gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRO 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			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	14	1	0

Variants in MRO

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

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

Position	Type	Phenotype	Significance	ClinVar
18-50800056-T-C		not specified	Uncertain significance (Jan 05, 2022)
18-50800061-C-T		not specified	Uncertain significance (Jul 29, 2022)
18-50800089-A-C		not specified	Uncertain significance (May 30, 2024)
18-50800094-T-C		not specified	Uncertain significance (Jan 16, 2024)
18-50801386-A-T		not specified	Uncertain significance (Jun 06, 2023)
18-50801404-T-G		not specified	Uncertain significance (Dec 17, 2023)
18-50801480-C-T		not specified	Uncertain significance (Jun 17, 2022)
18-50801482-G-A		not specified	Uncertain significance (Sep 15, 2021)
18-50805182-G-A		not specified	Uncertain significance (Jan 16, 2024)
18-50805185-A-G		not specified	Uncertain significance (Mar 07, 2023)
18-50805237-C-T		not specified	Likely benign (Mar 31, 2024)
18-50805279-C-G		not specified	Uncertain significance (Jun 07, 2023)
18-50805300-C-T		not specified	Uncertain significance (Mar 06, 2023)
18-50805312-G-C		not specified	Uncertain significance (Dec 22, 2023)
18-50806705-T-C		not specified	Uncertain significance (Nov 19, 2022)
18-50806822-C-T		not specified	Likely benign (Aug 21, 2023)
18-50819696-T-C		not specified	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRO	protein_coding	protein_coding	ENST00000436348	7	27199

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000180	0.686	123487	24	2235	125746	0.00902

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.424	152	138	1.10	0.00000695	1707
Missense in Polyphen		30	33.039	0.90801		417
Synonymous	-1.66	71	55.3	1.28	0.00000292	485
Loss of Function	1.10	11	15.7	0.701	8.08e-7	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00407	0.00407
Ashkenazi Jewish	0.0138	0.0138
East Asian	0.000709	0.000707
Finnish	0.0219	0.0219
European (Non-Finnish)	0.0123	0.0122
Middle Eastern	0.000709	0.000707
South Asian	0.00353	0.00321
Other	0.00799	0.00785

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.939
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.0566
• hipred: N
• hipred_score: 0.123
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0627

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Mro

Gene ontology

• Cellular component: nucleolus