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RPL7

ribosomal protein L7, the group of L ribosomal proteins

Basic information

Region (hg38): 8:73290241-73295789

Links

ENSG00000147604NCBI:6129OMIM:604166HGNC:10363Uniprot:P18124AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL7 gene.

  • Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL7 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
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 0 0

Variants in RPL7

This is a list of pathogenic ClinVar variants found in the RPL7 region.

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

Position Type Phenotype Significance ClinVar
8-73291061-T-G not specified Uncertain significance (Mar 23, 2022)2229440
8-73291641-A-G not specified Uncertain significance (Dec 12, 2022)2328380
8-73291821-T-C not specified Uncertain significance (Jan 04, 2022)2269375
8-73291899-A-G not specified Uncertain significance (May 25, 2022)2291010
8-73291909-T-C not specified Uncertain significance (Jan 26, 2023)2470010
8-73292361-G-C not specified Uncertain significance (May 03, 2023)2542903
8-73292364-C-A not specified Uncertain significance (Mar 23, 2022)2396466
8-73292390-T-C not specified Uncertain significance (Dec 13, 2022)2393339
8-73292690-A-C not specified Uncertain significance (May 05, 2023)2544703
8-73293602-A-G not specified Likely benign (Nov 14, 2023)3156107
8-73295302-G-C not specified Uncertain significance (Feb 27, 2024)3152767
8-73295338-G-T not specified Uncertain significance (Mar 06, 2023)2494715
8-73295471-C-T not specified Uncertain significance (Dec 06, 2021)2265314

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL7protein_codingprotein_codingENST00000352983 65519
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9960.0037400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.151011390.7260.000007531626
Missense in Polyphen312.1950.24601211
Synonymous-0.5395348.21.100.00000256458
Loss of Function3.76016.50.000.00000119168

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 (PubMed:12962325). Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs. {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;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

pRec
0.227

Intolerance Scores

loftool
rvis_EVS
-0.3
rvis_percentile_EVS
32.62

Haploinsufficiency Scores

pHI
0.957
hipred
Y
hipred_score
0.831
ghis
0.659

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.821

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl7
Phenotype

Zebrafish Information Network

Gene name
rpl7
Affected structure
trunk
Phenotype tag
abnormal
Phenotype quality
curved dorsal

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;ribosomal large subunit biogenesis
Cellular component
nucleus;nucleolus;cytoplasm;cytosol;polysome;focal adhesion;postsynaptic density;membrane;cytosolic large ribosomal subunit;ribonucleoprotein complex
Molecular function
DNA binding;RNA binding;mRNA binding;structural constituent of ribosome;protein binding;protein homodimerization activity