RNASE6
ribonuclease A family member k6, the group of Ribonuclease A family
Basic information
Region (hg38): 14:20781267-20782467
Previous symbols: [ "RNS6" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE6 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 3 | 1 | 4 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 1 | 0 |
Variants in RNASE6
This is a list of pathogenic ClinVar variants found in the RNASE6 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-20781779-G-A | Inborn genetic diseases | Likely benign (May 26, 2022) | ||
| 14-20781791-C-G | Inborn genetic diseases | Uncertain significance (May 11, 2022) | ||
| 14-20781868-A-T | Inborn genetic diseases | Uncertain significance (Aug 02, 2023) | ||
| 14-20782062-G-C | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | ||
| 14-20782112-C-G | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RNASE6 | protein_coding | protein_coding | ENST00000304677 | 1 | 1417 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0823 | 0.567 | 125738 | 0 | 1 | 125739 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.233 | 87 | 81.1 | 1.07 | 0.00000397 | 994 |
| Missense in Polyphen | 27 | 27.398 | 0.98548 | 381 | ||
| Synonymous | -0.0667 | 29 | 28.5 | 1.02 | 0.00000129 | 284 |
| Loss of Function | -0.210 | 1 | 0.798 | 1.25 | 3.48e-8 | 6 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| 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: Ribonuclease which shows a preference for the pyrimidines uridine and cytosine (PubMed:8836175, PubMed:27013146). Has potent antibacterial activity against a range of Gram-positive and Gram-negative bacteria, including P.aeruginosa, A.baumanii, M.luteus, S.aureus, E.faecalis, E.faecium, S.saprophyticus and E.coli (PubMed:25075772, PubMed:27089320). Causes loss of bacterial membrane integrity, and also promotes agglutination of Gram-negative bacteria (PubMed:27089320). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:27089320). {ECO:0000269|PubMed:25075772, ECO:0000269|PubMed:27013146, ECO:0000269|PubMed:27089320, ECO:0000269|PubMed:8836175}.;
- Pathway
- TYROBP Causal Network;Antimicrobial peptides;Innate Immune System;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.0867
Intolerance Scores
- loftool
- 0.812
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 73.97
Haploinsufficiency Scores
- pHI
- 0.484
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.416
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.686
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rnase6
- Phenotype
Gene ontology
- Biological process
- RNA catabolic process;defense response;antimicrobial humoral response;antibacterial humoral response;innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;defense response to virus;antimicrobial humoral immune response mediated by antimicrobial peptide;RNA phosphodiester bond hydrolysis
- Cellular component
- extracellular region;extracellular space;lysosome;cytoplasmic vesicle
- Molecular function
- nucleic acid binding;endonuclease activity;ribonuclease activity