RPL7
ribosomal protein L7, the group of L ribosomal proteins
Basic information
Region (hg38): 8:73290241-73295789
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (7 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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 6 | 6 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 1 | 1 | ||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in RPL7
This is a list of pathogenic ClinVar variants found in the RPL7 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-73291061-T-G | Inborn genetic diseases | Uncertain significance (Mar 23, 2022) | ||
| 8-73291641-A-G | Inborn genetic diseases | Uncertain significance (Dec 12, 2022) | ||
| 8-73291821-T-C | Inborn genetic diseases | Uncertain significance (Jan 04, 2022) | ||
| 8-73291899-A-G | Inborn genetic diseases | Uncertain significance (May 25, 2022) | ||
| 8-73291909-T-C | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | ||
| 8-73292361-G-C | Inborn genetic diseases | Uncertain significance (May 03, 2023) | ||
| 8-73292364-C-A | Inborn genetic diseases | Uncertain significance (Mar 23, 2022) | ||
| 8-73292390-T-C | Inborn genetic diseases | Uncertain significance (Dec 13, 2022) | ||
| 8-73292690-A-C | Inborn genetic diseases | Uncertain significance (May 05, 2023) | ||
| 8-73295338-G-T | Inborn genetic diseases | Uncertain significance (Mar 06, 2023) | ||
| 8-73295471-C-T | Inborn genetic diseases | Uncertain significance (Dec 06, 2021) |
GnomAD
Source:
| 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:
- 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
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
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