RNASE6

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

Basic information

Region (hg38): 14:20781267-20782467

Previous symbols: [ "RNS6" ]

Links

ENSG00000169413 ∙ NCBI:6039 ∙ OMIM:601981 ∙ HGNC:10048 ∙ Uniprot:Q93091 ∙ 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 RNASE6 gene.

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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	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)
14-20781791-C-G		not specified	Uncertain significance (May 11, 2022)
14-20781843-G-T		not specified	Uncertain significance (Dec 12, 2023)
14-20781868-A-T		not specified	Uncertain significance (Aug 02, 2023)
14-20781978-C-G		not specified	Uncertain significance (Dec 20, 2023)
14-20782043-G-A		not specified	Uncertain significance (Dec 13, 2023)
14-20782062-G-C		not specified	Uncertain significance (Nov 10, 2022)
14-20782112-C-G		not specified	Uncertain significance (Apr 12, 2022)

GnomAD

Source: gnomAD

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: 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

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

Mouse Genome Informatics

• Gene name: Rnase6

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