RPL8

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

Basic information

Region (hg38): 8:144789764-144792587

Links

ENSG00000161016 ∙ NCBI:6132 ∙ OMIM:604177 ∙ HGNC:10368 ∙ Uniprot:P62917 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	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
8-144789826-G-T		not specified	Uncertain significance (Jan 03, 2024)
8-144790377-C-T		not specified	Uncertain significance (Dec 28, 2022)
8-144791286-C-A		not specified	Uncertain significance (Jul 09, 2021)
8-144791486-T-A		not specified	Uncertain significance (Oct 06, 2022)
8-144791802-G-C		not specified	Uncertain significance (Jul 12, 2023)
8-144791838-C-G		not specified	Uncertain significance (Mar 24, 2023)
8-144791856-G-A		not specified	Uncertain significance (Jun 29, 2022)
8-144791860-C-T		not specified	Uncertain significance (Feb 28, 2023)
8-144791874-T-C		not specified	Uncertain significance (Sep 27, 2021)
8-144791994-T-G		not specified	Uncertain significance (Dec 20, 2021)
8-144791997-C-T		not specified	Uncertain significance (Sep 27, 2021)
8-144792017-T-C			Uncertain significance (Dec 14, 2021)
8-144792039-C-G		not specified	Uncertain significance (Jan 18, 2022)
8-144792101-T-C		not specified	Uncertain significance (Oct 13, 2023)
8-144792120-C-T		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL8	protein_coding	protein_coding	ENST00000262584	5	2823

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.955	0.0446	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.75	106	170	0.623	0.00000961	1632
Missense in Polyphen		18	58.709	0.30659		584
Synonymous	-2.46	89	64.0	1.39	0.00000312	557
Loss of Function	2.89	0	9.74	0.00	5.97e-7	113

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: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

• 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

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

Mouse Genome Informatics

• Gene name: Rpl8

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