MRPL11

mitochondrial ribosomal protein L11, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 11:66435075-66466738

Links

ENSG00000174547 ∙ NCBI:65003 ∙ OMIM:611826 ∙ HGNC:14042 ∙ Uniprot:Q9Y3B7 ∙ 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 MRPL11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL11 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			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in MRPL11

This is a list of pathogenic ClinVar variants found in the MRPL11 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-66436068-A-G		not specified	Uncertain significance (Aug 14, 2023)
11-66436087-A-G		not specified	Uncertain significance (Jul 14, 2023)
11-66437114-C-T		not specified	Uncertain significance (Nov 07, 2023)
11-66437116-C-T		not specified	Uncertain significance (Mar 28, 2023)
11-66437117-G-A		not specified	Uncertain significance (Jun 29, 2023)
11-66437131-C-T		not specified	Uncertain significance (Feb 10, 2023)
11-66437213-G-T		not specified	Uncertain significance (Jun 29, 2022)
11-66437358-C-T		not specified	Uncertain significance (Sep 17, 2021)
11-66437391-A-C		not specified	Uncertain significance (Mar 20, 2024)
11-66438667-T-C		not specified	Uncertain significance (Dec 05, 2022)
11-66438676-C-T		not specified	Uncertain significance (Nov 30, 2021)
11-66438681-C-T		not specified	Uncertain significance (Jun 29, 2023)
11-66438735-G-A		not specified	Uncertain significance (Jul 09, 2021)
11-66438738-C-G		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL11	protein_coding	protein_coding	ENST00000310999	5	31664

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000154	0.133	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.186	113	108	1.05	0.00000572	1205
Missense in Polyphen		45	41.509	1.0841		494
Synonymous	0.0123	43	43.1	0.998	0.00000214	412
Loss of Function	-0.570	8	6.44	1.24	2.69e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.00	0.00
South Asian	0.000196	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);mechanism of gene regulation by peroxisome proliferators via ppara;Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.295
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.475
• hipred: Y
• hipred_score: 0.590
• ghis: 0.647

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.912

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl11

Gene ontology

• Biological process: ribosomal large subunit assembly;translation;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial ribosome;mitochondrial large ribosomal subunit;large ribosomal subunit
• Molecular function: RNA binding;structural constituent of ribosome;protein binding;rRNA binding;large ribosomal subunit rRNA binding