RNASE2
Basic information
Region (hg38): 14:20955487-20956436
Previous symbols: [ "RNS2" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (16 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002934.3. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 16 | 17 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 16 | 1 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RNASE2 | protein_coding | protein_coding | ENST00000304625 | 1 | 985 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.384 | 79 | 89.2 | 0.886 | 0.00000468 | 1068 |
Missense in Polyphen | 21 | 28.097 | 0.7474 | 360 | ||
Synonymous | -1.31 | 41 | 31.6 | 1.30 | 0.00000165 | 313 |
Loss of Function |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | ||
East Asian | ||
Finnish | ||
European (Non-Finnish) | ||
Middle Eastern | ||
South Asian | ||
Other |
dbNSFP
Source:
- Function
- FUNCTION: This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities. {ECO:0000269|PubMed:12578357, ECO:0000269|PubMed:3458170}.;
- Pathway
- Neutrophil degranulation;Innate Immune System;Immune System
(Consensus)
Intolerance Scores
- loftool
- 0.602
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.32
Haploinsufficiency Scores
- pHI
- 0.212
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.440
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.619
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rnase2b
- Phenotype
Gene ontology
- Biological process
- RNA catabolic process;chemotaxis;induction of bacterial agglutination;neutrophil degranulation;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;defense response to virus;RNA phosphodiester bond hydrolysis;RNA phosphodiester bond hydrolysis, endonucleolytic
- Cellular component
- extracellular region;azurophil granule lumen;extracellular exosome
- Molecular function
- lipopolysaccharide binding;nucleic acid binding;ribonuclease A activity;ribonuclease activity