MRPS27

mitochondrial ribosomal protein S27, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins|Pentatricopeptide repeat containing

Basic information

Region (hg38): 5:72214953-72321717

Links

ENSG00000113048 ∙ NCBI:23107 ∙ OMIM:611989 ∙ HGNC:14512 ∙ Uniprot:Q92552 ∙ 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 MRPS27 gene.

• not_specified (56 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015084.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			51	5	2	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	5	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS27	protein_coding	protein_coding	ENST00000261413	11	101238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000192	0.973	125716	0	32	125748	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0231	207	208	0.995	0.00000985	2684
Missense in Polyphen		70	78.175	0.89543		1017
Synonymous	-1.30	91	76.6	1.19	0.00000343	766
Loss of Function	2.04	13	23.8	0.547	0.00000117	292

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000581	0.0000581
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000194	0.000193
Middle Eastern	0.0000545	0.0000544
South Asian	0.000131	0.000131
Other	0.000168	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis (PubMed:22841715). Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain (PubMed:22841715). Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:28714366). {ECO:0000269|PubMed:22841715, ECO:0000269|PubMed:28714366}.
• Pathway: Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0835

Intolerance Scores

• loftool: 0.669
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.0510
• hipred: N
• hipred_score: 0.478
• ghis: 0.480

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.962

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrps27

Gene ontology

• Biological process: cell population proliferation;mitochondrial translational elongation;mitochondrial translational termination;positive regulation of mitochondrial translation
• Cellular component: cytoplasm;mitochondrion;mitochondrial inner membrane;mitochondrial small ribosomal subunit
• Molecular function: tRNA binding;protein binding;rRNA binding;mitochondrial ribosome binding