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GeneBe

RPL8

ribosomal protein L8, the group of L ribosomal proteins|MicroRNA protein coding host genes

Basic information

Region (hg38): 8:144789764-144792587

Links

ENSG00000161016NCBI:6132OMIM:604177HGNC:10368Uniprot:P62917AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Diamond-Blackfan anemia (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL8 gene.

  • Inborn genetic diseases (11 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL8 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
12
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 12 0 0

Variants in RPL8

This is a list of pathogenic ClinVar variants found in the RPL8 region.

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

Position Type Phenotype Significance ClinVar
8-144790377-C-T Inborn genetic diseases Uncertain significance (Dec 28, 2022)2385597
8-144791286-C-A Inborn genetic diseases Uncertain significance (Jul 09, 2021)2235612
8-144791486-T-A Inborn genetic diseases Uncertain significance (Oct 06, 2022)2317453
8-144791802-G-C Inborn genetic diseases Uncertain significance (Jul 12, 2023)2611655
8-144791838-C-G Inborn genetic diseases Uncertain significance (Mar 24, 2023)2529710
8-144791856-G-A Inborn genetic diseases Uncertain significance (Jun 29, 2022)2409206
8-144791860-C-T Inborn genetic diseases Uncertain significance (Feb 28, 2023)2470479
8-144791874-T-C Inborn genetic diseases Uncertain significance (Sep 27, 2021)2252655
8-144791994-T-G Inborn genetic diseases Uncertain significance (Dec 20, 2021)2218328
8-144791997-C-T Inborn genetic diseases Uncertain significance (Sep 27, 2021)2252551
8-144792017-T-C Uncertain significance (Dec 14, 2021)1327921
8-144792039-C-G Inborn genetic diseases Uncertain significance (Jan 18, 2022)2212197

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL8protein_codingprotein_codingENST00000262584 52823
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9550.044600000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.751061700.6230.000009611632
Missense in Polyphen1858.7090.30659584
Synonymous-2.468964.01.390.00000312557
Loss of Function2.8909.740.005.97e-7113

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: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)

Intolerance Scores

loftool
rvis_EVS
-0.21
rvis_percentile_EVS
38.58

Haploinsufficiency Scores

pHI
0.933
hipred
Y
hipred_score
0.831
ghis
0.586

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.964

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl8
Phenotype

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
cytosol;focal adhesion;postsynaptic density;membrane;cytosolic large ribosomal subunit;polysomal ribosome;postsynapse
Molecular function
RNA binding;structural constituent of ribosome;rRNA binding