RPL7

ribosomal protein L7, the group of L ribosomal proteins

Basic information

Region (hg38): 8:73290242-73295789

Links

ENSG00000147604 ∙ NCBI:6129 ∙ OMIM:604166 ∙ HGNC:10363 ∙ Uniprot:P18124 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	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 (Jun 16, 2024)
8-73291192-C-T		not specified	Uncertain significance (Oct 29, 2024)
8-73291641-A-G		not specified	Uncertain significance (Dec 12, 2022)
8-73291821-T-C		not specified	Uncertain significance (Jan 04, 2022)
8-73291845-T-C		not specified	Uncertain significance (May 14, 2024)
8-73291899-A-G		not specified	Uncertain significance (May 25, 2022)
8-73291909-T-C		not specified	Uncertain significance (Jan 26, 2023)
8-73292284-T-C		not specified	Uncertain significance (May 07, 2024)
8-73292320-C-A		not specified	Uncertain significance (Mar 30, 2024)
8-73292321-G-T			Likely benign (Jan 01, 2025)
8-73292361-G-C		not specified	Uncertain significance (May 03, 2023)
8-73292364-C-A		not specified	Uncertain significance (Mar 23, 2022)
8-73292378-A-G		not specified	Uncertain significance (Dec 10, 2024)
8-73292390-T-C		not specified	Uncertain significance (Dec 13, 2022)
8-73292690-A-C		not specified	Uncertain significance (May 05, 2023)
8-73292768-G-A		not specified	Uncertain significance (Mar 25, 2024)
8-73292772-C-T		not specified	Uncertain significance (Nov 14, 2024)
8-73293602-A-G		not specified	Likely benign (Nov 14, 2023)
8-73293606-C-G		not specified	Uncertain significance (Jun 17, 2024)
8-73295302-G-C		not specified	Uncertain significance (Feb 27, 2024)
8-73295338-G-T		not specified	Uncertain significance (Mar 06, 2023)
8-73295471-C-T		not specified	Uncertain significance (Dec 06, 2021)
8-73295551-G-A		not specified	Uncertain significance (Dec 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL7	protein_coding	protein_coding	ENST00000352983	6	5519

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00374	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	101	139	0.726	0.00000753	1626
Missense in Polyphen		3	12.195	0.24601		211
Synonymous	-0.539	53	48.2	1.10	0.00000256	458
Loss of Function	3.76	0	16.5	0.00	0.00000119	168

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 (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

• 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

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

Mouse Genome Informatics

• Gene name: Rpl7

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