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RPL6

ribosomal protein L6, the group of L ribosomal proteins

Basic information

Region (hg38): 12:112405188-112418838

Previous symbols: [ "TXREB1" ]

Links

ENSG00000089009NCBI:6128OMIM:603703HGNC:10362Uniprot:Q02878AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL6 gene.

  • Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL6 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
6
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 6 0 0

Variants in RPL6

This is a list of pathogenic ClinVar variants found in the RPL6 region.

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

Position Type Phenotype Significance ClinVar
12-112405306-T-G Inborn genetic diseases Uncertain significance (Aug 04, 2023)2616081
12-112405902-A-T Inborn genetic diseases Uncertain significance (Dec 13, 2022)2334001
12-112405916-G-T Inborn genetic diseases Uncertain significance (Jul 06, 2021)2234700
12-112406878-G-A Inborn genetic diseases Uncertain significance (Aug 12, 2021)2244127
12-112408298-G-C Inborn genetic diseases Uncertain significance (Dec 13, 2022)2334000
12-112408597-C-G Inborn genetic diseases Uncertain significance (Feb 06, 2023)2481330
12-112418795-C-G Noonan syndrome 1 • LEOPARD syndrome 1 • Metachondromatosis Uncertain significance (Jan 13, 2018)882155
12-112418795-C-T RASopathy Benign/Likely benign (Jun 01, 2023)695270
12-112418821-G-A Noonan syndrome 1 • LEOPARD syndrome 1 • Metachondromatosis Uncertain significance (Jan 13, 2018)882403
12-112418825-G-C Metachondromatosis • LEOPARD syndrome 1 • Noonan syndrome 1 Benign/Likely benign (Jan 12, 2018)307219
12-112418839-G-A Noonan syndrome 1 • Metachondromatosis • LEOPARD syndrome 1 • RASopathy • Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1 Benign (Jan 19, 2024)307220

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL6protein_codingprotein_codingENST00000424576 613649
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9930.0067400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.031291660.7750.000009401854
Missense in Polyphen2639.4720.65869542
Synonymous-0.3916763.11.060.00000373575
Loss of Function3.58014.90.009.92e-7177

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;TNFalpha;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

pRec
0.212

Intolerance Scores

loftool
rvis_EVS
-0.14
rvis_percentile_EVS
43.29

Haploinsufficiency Scores

pHI
0.650
hipred
Y
hipred_score
0.756
ghis
0.593

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.731

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl6
Phenotype

Zebrafish Information Network

Gene name
rpl6
Affected structure
anatomical system
Phenotype tag
abnormal
Phenotype quality
quality

Gene ontology

Biological process
ribosomal large subunit assembly;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;regulation of transcription, DNA-templated;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
Cellular component
nucleus;rough endoplasmic reticulum;cytosol;focal adhesion;postsynaptic density;membrane;cytosolic large ribosomal subunit;cytoplasmic ribonucleoprotein granule;polysomal ribosome
Molecular function
DNA binding;RNA binding;structural constituent of ribosome;cadherin binding