RPL36

ribosomal protein L36, the group of L ribosomal proteins

Basic information

Region (hg38): 19:5674946-5691875

Links

ENSG00000130255 ∙ NCBI:25873 ∙ OMIM:617893 ∙ HGNC:13631 ∙ Uniprot:Q9Y3U8 ∙ 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 RPL36 gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL36 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in RPL36

This is a list of pathogenic ClinVar variants found in the RPL36 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-5675985-G-A			Benign (Nov 01, 2022)
19-5678594-T-C		Inborn genetic diseases	Uncertain significance (Jun 11, 2021)
19-5678601-G-C		Inborn genetic diseases	Uncertain significance (Jan 12, 2022)
19-5678617-C-T			Likely benign (Apr 28, 2022)
19-5678620-C-T			Likely benign (Dec 11, 2023)
19-5678646-T-C			Likely benign (Mar 01, 2024)
19-5678647-GC-G			Conflicting classifications of pathogenicity (Jul 27, 2023)
19-5678650-T-C		Combined oxidative phosphorylation deficiency 37	Pathogenic (Nov 01, 2019)
19-5678663-C-T			Likely benign (Oct 24, 2022)
19-5679338-G-T			Likely benign (Oct 24, 2022)
19-5679399-G-T			Uncertain significance (Jul 06, 2022)
19-5679401-GAA-G		MICOS13-related disorder	Benign/Likely benign (Dec 11, 2023)
19-5679416-A-C			Likely benign (Nov 12, 2022)
19-5679567-C-T			Likely benign (Nov 17, 2023)
19-5679642-CG-C			Likely pathogenic (Dec 22, 2021)
19-5679646-G-C			Likely benign (Jan 31, 2023)
19-5679657-C-T			Uncertain significance (Jun 21, 2022)
19-5679715-G-T		Inborn genetic diseases	Likely pathogenic (Aug 27, 2021)
19-5679718-C-T			Likely benign (Jul 15, 2022)
19-5679730-G-A			Likely benign (Jan 12, 2024)
19-5679739-A-T		MICOS13-related disorder	Likely benign (Jul 13, 2022)
19-5679743-A-G			Uncertain significance (Oct 03, 2023)
19-5679748-TC-T		Mitochondrial hepato-encephalopathy • Combined oxidative phosphorylation deficiency 37	Conflicting classifications of pathogenicity (Feb 22, 2019)
19-5679764-C-T		Combined oxidative phosphorylation deficiency 37	Pathogenic (Feb 22, 2019)
19-5680090-G-A		MICOS13-related disorder	Likely benign (Oct 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL36	protein_coding	protein_coding	ENST00000577222	3	16930

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.678	0.304	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	34	59.9	0.568	0.00000288	677
Missense in Polyphen		1	4.6554	0.21481		88
Synonymous	-1.67	36	25.3	1.42	0.00000118	208
Loss of Function	1.78	0	3.70	0.00	1.60e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the large ribosomal subunit. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000305|PubMed:12962325}.
• Pathway: Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.151

Intolerance Scores

• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.149
• hipred: Y
• hipred_score: 0.800
• ghis: 0.628

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.980

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rpl36

Zebrafish Information Network

• Gene name: rpl36
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: decreased thickness

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
• Cellular component: nucleolus;cytoplasm;cytosol;membrane;cytosolic large ribosomal subunit;polysomal ribosome
• Molecular function: RNA binding;structural constituent of ribosome