MRPL37

mitochondrial ribosomal protein L37, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 1:54184040-54225464

Links

ENSG00000116221 ∙ NCBI:51253 ∙ OMIM:611843 ∙ HGNC:14034 ∙ Uniprot:Q9BZE1 ∙ 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 MRPL37 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL37 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			19	1		20
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in MRPL37

This is a list of pathogenic ClinVar variants found in the MRPL37 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-54184174-T-C		not specified	Uncertain significance (Jul 26, 2022)
1-54184240-C-G		not specified	Uncertain significance (Jan 31, 2022)
1-54187693-T-C		not specified	Uncertain significance (Sep 13, 2023)
1-54190829-G-C		not specified	Uncertain significance (Jan 31, 2022)
1-54195529-C-T		not specified	Uncertain significance (Jul 09, 2021)
1-54200307-G-A		not specified	Uncertain significance (Dec 13, 2023)
1-54200373-C-T		not specified	Uncertain significance (Mar 23, 2022)
1-54200376-C-T		not specified	Uncertain significance (Jul 12, 2023)
1-54200395-A-T		not specified	Uncertain significance (Dec 02, 2022)
1-54200427-G-A		not specified	Uncertain significance (Jan 24, 2024)
1-54205134-C-G		not specified	Uncertain significance (Jul 08, 2022)
1-54205387-C-T		not specified	Uncertain significance (Sep 22, 2022)
1-54209985-G-A		not specified	Uncertain significance (Mar 05, 2024)
1-54209990-A-C		not specified	Uncertain significance (Aug 08, 2022)
1-54210074-A-G		not specified	Uncertain significance (Mar 24, 2023)
1-54210089-G-A		not specified	Uncertain significance (Apr 13, 2022)
1-54212511-A-C		not specified	Uncertain significance (Jun 21, 2023)
1-54212521-T-C		not specified	Uncertain significance (Feb 22, 2023)
1-54212547-A-T		not specified	Likely benign (Nov 17, 2022)
1-54212554-A-G		not specified	Uncertain significance (May 11, 2022)
1-54212630-C-A		not specified	Uncertain significance (Jun 11, 2021)
1-54212644-C-T		not specified	Uncertain significance (Dec 06, 2021)
1-54212653-T-C		not specified	Uncertain significance (May 31, 2023)
1-54216158-G-C		not specified	Uncertain significance (Feb 10, 2022)
1-54216183-G-A		not specified	Uncertain significance (Feb 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL37	protein_coding	protein_coding	ENST00000360840	7	41424

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.39e-8	0.597	125668	0	80	125748	0.000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.502	229	251	0.911	0.0000135	2729
Missense in Polyphen		54	63.158	0.855		725
Synonymous	0.638	98	106	0.921	0.00000591	878
Loss of Function	1.16	15	20.7	0.724	0.00000115	213

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00103	0.00103
Ashkenazi Jewish	0.00	0.00
East Asian	0.000329	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000291	0.000290
Middle Eastern	0.000329	0.000326
South Asian	0.000229	0.000229
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0778

Intolerance Scores

• loftool: 0.841
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.61

Haploinsufficiency Scores

• pHI: 0.337
• hipred: N
• hipred_score: 0.238
• ghis: 0.551

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.714

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl37

Gene ontology

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