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RPL22

ribosomal protein L22, the group of L ribosomal proteins

Basic information

Region (hg38): 1:6185019-6209389

Links

ENSG00000116251NCBI:6146OMIM:180474HGNC:10315Uniprot:P35268AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL22 gene.

  • Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL22 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
3
clinvar
3
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 3 0 0

Variants in RPL22

This is a list of pathogenic ClinVar variants found in the RPL22 region.

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

Position Type Phenotype Significance ClinVar
1-6192969-C-G Inborn genetic diseases Uncertain significance (Aug 08, 2022)2306000
1-6197704-G-A Inborn genetic diseases Uncertain significance (Jun 09, 2022)2294907
1-6199569-G-A Inborn genetic diseases Uncertain significance (Dec 20, 2022)2216697
1-6206540-C-G Inborn genetic diseases Uncertain significance (Aug 02, 2023)2615273
1-6206636-G-A Inborn genetic diseases Uncertain significance (Oct 25, 2022)2231578
1-6206671-G-A Inborn genetic diseases Uncertain significance (Mar 02, 2023)2461673
1-6206714-G-A Inborn genetic diseases Uncertain significance (Jun 24, 2022)2380200
1-6207407-G-A Inborn genetic diseases Uncertain significance (Apr 18, 2023)2519396
1-6207408-G-A Inborn genetic diseases Uncertain significance (Oct 21, 2021)2256295
1-6207417-C-T Inborn genetic diseases Uncertain significance (Feb 10, 2022)2407737
1-6207444-T-C Inborn genetic diseases Uncertain significance (Jul 14, 2023)2611893
1-6207464-G-A Inborn genetic diseases Uncertain significance (Feb 07, 2023)2466218
1-6208912-G-A Inborn genetic diseases Uncertain significance (Nov 15, 2021)2261347
1-6209164-G-A Likely benign (Dec 31, 2019)729039

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL22protein_codingprotein_codingENST00000234875 428121
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1560.782125737041257410.0000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.673271.80.4450.00000420848
Missense in Polyphen514.8010.33781227
Synonymous0.1292727.90.9690.00000189219
Loss of Function1.5326.060.3302.54e-784

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)0.00003550.0000352
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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
0.280

Intolerance Scores

loftool
rvis_EVS
0.01
rvis_percentile_EVS
54.63

Haploinsufficiency Scores

pHI
0.352
hipred
Y
hipred_score
0.842
ghis
0.658

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.982

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow

Mouse Genome Informatics

Gene name
Rpl22
Phenotype
hematopoietic system phenotype; normal phenotype; immune system phenotype; renal/urinary system phenotype; endocrine/exocrine gland phenotype; cellular phenotype;

Zebrafish Information Network

Gene name
rpl22
Affected structure
alpha-beta T cell
Phenotype tag
abnormal
Phenotype quality
aplastic/hypoplastic

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
Cellular component
nucleus;cytoplasm;cytosol;focal adhesion;cytosolic large ribosomal subunit;extracellular exosome;ribonucleoprotein complex
Molecular function
RNA binding;structural constituent of ribosome;protein binding;heparin binding