MRPL47

mitochondrial ribosomal protein L47, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 3:179588285-179604649

Links

ENSG00000136522 ∙ NCBI:57129 ∙ OMIM:611852 ∙ HGNC:16652 ∙ Uniprot:Q9HD33 ∙ 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 MRPL47 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL47 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			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in MRPL47

This is a list of pathogenic ClinVar variants found in the MRPL47 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-179588877-C-T		not specified	Uncertain significance (May 02, 2024)
3-179588946-C-G		not specified	Uncertain significance (Feb 28, 2023)
3-179588960-C-T		not specified	Uncertain significance (Jul 13, 2021)
3-179588972-C-A		not specified	Uncertain significance (May 13, 2024)
3-179588973-G-A		not specified	Uncertain significance (Nov 08, 2022)
3-179592686-C-G		not specified	Uncertain significance (Mar 31, 2022)
3-179592693-A-G		not specified	Uncertain significance (Feb 10, 2022)
3-179592714-G-T		not specified	Uncertain significance (Mar 24, 2023)
3-179593852-C-T		not specified	Uncertain significance (May 09, 2024)
3-179593888-T-A		not specified	Uncertain significance (Feb 06, 2024)
3-179598694-C-T		not specified	Uncertain significance (Apr 07, 2022)
3-179598716-G-A		not specified	Uncertain significance (Nov 09, 2022)
3-179598746-T-C		not specified	Uncertain significance (Jan 22, 2024)
3-179598751-C-T		not specified	Uncertain significance (Jul 14, 2023)
3-179604536-G-T		not specified	Uncertain significance (Jan 19, 2024)
3-179604570-A-G		not specified	Uncertain significance (Jul 30, 2023)
3-179604603-G-C		not specified	Likely benign (May 22, 2023)
3-179604611-C-G		not specified	Uncertain significance (Feb 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL47	protein_coding	protein_coding	ENST00000476781	7	16370

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000428	0.966	125713	0	33	125746	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.224	137	130	1.06	0.00000642	1614
Missense in Polyphen		40	40.035	0.99913		535
Synonymous	-0.116	47	46.0	1.02	0.00000200	462
Loss of Function	1.88	8	16.2	0.494	8.87e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000241	0.000241
Ashkenazi Jewish	0.000667	0.000595
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.0000545	0.0000544
South Asian	0.000425	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.906
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.57

Haploinsufficiency Scores

• pHI: 0.0738
• hipred: Y
• hipred_score: 0.550
• ghis: 0.508

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl47
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

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