RPL36

ribosomal protein L36, the group of L ribosomal proteins

Basic information

Region (hg38): 19:5674947-5691875

Links

ENSG00000130255NCBI:25873OMIM:617893HGNC:13631Uniprot:Q9Y3U8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL36 gene.

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
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 2 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)2649117
19-5678594-T-C Inborn genetic diseases Uncertain significance (Jun 11, 2021)3126313
19-5678601-G-C Inborn genetic diseases Uncertain significance (Jan 12, 2022)3126312
19-5678617-C-T Likely benign (Apr 28, 2022)2171050
19-5678620-C-T Likely benign (Dec 11, 2023)2415537
19-5678646-T-C Likely benign (Mar 01, 2024)3067289
19-5678647-GC-G Conflicting classifications of pathogenicity (Mar 19, 2024)1007450
19-5678650-T-C Combined oxidative phosphorylation deficiency 37 Pathogenic (Nov 01, 2019)425157
19-5678663-C-T Likely benign (Oct 24, 2022)1682905
19-5679338-G-T Likely benign (Oct 24, 2022)2071883
19-5679399-G-T Uncertain significance (Jul 06, 2022)2190629
19-5679401-GAA-G MICOS13-related disorder Benign (Dec 11, 2023)2065825
19-5679416-A-C Likely benign (Nov 12, 2022)2783395
19-5679567-C-T Likely benign (Nov 17, 2023)2962000
19-5679642-CG-C Combined oxidative phosphorylation deficiency 37 Conflicting classifications of pathogenicity (Feb 09, 2024)1526386
19-5679646-G-C Likely benign (Jan 31, 2023)3006557
19-5679657-C-T Uncertain significance (Jun 21, 2022)2007490
19-5679715-G-T Inborn genetic diseases Likely pathogenic (Aug 27, 2021)3126314
19-5679718-C-T Likely benign (Jul 15, 2022)1948114
19-5679730-G-A Likely benign (Jan 12, 2024)2710373
19-5679739-A-T MICOS13-related disorder Likely benign (Jul 13, 2022)3032293
19-5679743-A-G Uncertain significance (Oct 03, 2023)2851815
19-5679748-TC-T Mitochondrial hepato-encephalopathy • Combined oxidative phosphorylation deficiency 37 Conflicting classifications of pathogenicity (Feb 22, 2019)617631
19-5679764-C-T Combined oxidative phosphorylation deficiency 37 Pathogenic (Feb 22, 2019)619099
19-5680090-G-A MICOS13-related disorder Likely benign (Oct 27, 2022)3047453

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL36protein_codingprotein_codingENST00000577222 316930
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6780.30400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.193459.90.5680.00000288677
Missense in Polyphen14.65540.2148188
Synonymous-1.673625.31.420.00000118208
Loss of Function1.7803.700.001.60e-747

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

loftool
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

AllRecessiveDominant
MendelianMediumLowMedium
Primary ImmunodeficiencyMediumLowMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl36
Phenotype

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