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RPL14

ribosomal protein L14, the group of L ribosomal proteins

Basic information

Region (hg38): 3:40457291-40468587

Links

ENSG00000188846NCBI:9045OMIM:617414HGNC:10305Uniprot:P50914AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL14 gene.

  • Inborn genetic diseases (5 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL14 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
5
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
2
clinvar
2
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 5 0 2

Variants in RPL14

This is a list of pathogenic ClinVar variants found in the RPL14 region.

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

Position Type Phenotype Significance ClinVar
3-40457924-C-G Inborn genetic diseases Uncertain significance (Mar 29, 2022)2280634
3-40462029-A-ACTGCTGCTGCTGCTGCTG Benign (Dec 31, 2019)770140
3-40462029-A-ACTGCTGCTGCTGCTG Benign (Dec 31, 2019)770139
3-40462068-C-A Inborn genetic diseases Uncertain significance (Nov 08, 2022)2324690
3-40462129-A-C Inborn genetic diseases Uncertain significance (Mar 01, 2023)2492648
3-40462141-A-G Inborn genetic diseases Uncertain significance (Jan 26, 2022)2273681
3-40462212-G-A Inborn genetic diseases Uncertain significance (Sep 17, 2021)2251742

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL14protein_codingprotein_codingENST00000396203 65079
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8950.105120059011200600.00000416
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3571061170.9070.000005801394
Missense in Polyphen1927.5430.68984390
Synonymous0.8753542.20.8290.00000229419
Loss of Function2.90111.70.08556.82e-7125

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)0.000009040.00000904
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;De novo fatty acid biosynthesis;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
0.192

Intolerance Scores

loftool
rvis_EVS
0.26
rvis_percentile_EVS
70.06

Haploinsufficiency Scores

pHI
0.976
hipred
Y
hipred_score
0.783
ghis
0.534

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
N
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.824

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl14
Phenotype

Zebrafish Information Network

Gene name
rpl14
Affected structure
trunk
Phenotype tag
abnormal
Phenotype quality
decreased thickness

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;ribosomal large subunit biogenesis
Cellular component
cytosol;postsynaptic density;membrane;cytosolic large ribosomal subunit;extracellular exosome
Molecular function
RNA binding;structural constituent of ribosome;protein binding;cadherin binding