RNASE8

ribonuclease A family member 8, the group of Ribonuclease A family

Basic information

Region (hg38): 14:21057822-21058455

Links

ENSG00000173431 ∙ NCBI:122665 ∙ OMIM:612485 ∙ HGNC:19277 ∙ Uniprot:Q8TDE3 ∙ 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 RNASE8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE8 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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	0

Variants in RNASE8

This is a list of pathogenic ClinVar variants found in the RNASE8 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-21057936-T-G		not specified	Uncertain significance (May 13, 2024)
14-21058007-A-C		not specified	Uncertain significance (Mar 29, 2022)
14-21058053-T-C		not specified	Uncertain significance (Dec 21, 2022)
14-21058112-C-T		not specified	Likely benign (Dec 21, 2022)
14-21058262-C-A		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE8	protein_coding	protein_coding	ENST00000308227	1	634

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	0.737	63	81.7	0.771	0.00000401	1003
Missense in Polyphen		10	20.991	0.4764		310
Synonymous	-0.422	37	33.9	1.09	0.00000179	309
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: dbNSFP

• Function: FUNCTION: Has a low ribonuclease activity.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Intolerance Scores

• loftool: 0.630
• rvis_EVS: 0.5
• rvis_percentile_EVS: 79.89

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.409

Gene Damage Prediction

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

Gene ontology

• Biological process: innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;antifungal innate immune response;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: extracellular region
• Molecular function: nucleic acid binding;ribonuclease A activity;ribonuclease activity