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RNASE6

ribonuclease A family member k6, the group of Ribonuclease A family

Basic information

Region (hg38): 14:20781267-20782467

Previous symbols: [ "RNS6" ]

Links

ENSG00000169413NCBI:6039OMIM:601981HGNC:10048Uniprot:Q93091AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNASE6 gene.

  • Inborn genetic diseases (5 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.

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
4
clinvar
1
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 4 1 0

Variants in RNASE6

This is a list of pathogenic ClinVar variants found in the RNASE6 region.

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

Position Type Phenotype Significance ClinVar
14-20781779-G-A not specified Likely benign (May 26, 2022)2387658
14-20781791-C-G not specified Uncertain significance (May 11, 2022)2343853
14-20781843-G-T not specified Uncertain significance (Dec 12, 2023)3154853
14-20781868-A-T not specified Uncertain significance (Aug 02, 2023)2615145
14-20781978-C-G not specified Uncertain significance (Dec 20, 2023)3154854
14-20782043-G-A not specified Uncertain significance (Dec 13, 2023)3154855
14-20782062-G-C not specified Uncertain significance (Nov 10, 2022)2325404
14-20782112-C-G not specified Uncertain significance (Apr 12, 2022)2358047

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNASE6protein_codingprotein_codingENST00000304677 11417
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.08230.567125738011257390.00000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2338781.11.070.00000397994
Missense in Polyphen2727.3980.98548381
Synonymous-0.06672928.51.020.00000129284
Loss of Function-0.21010.7981.253.48e-86

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
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: 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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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