RNASE11

ribonuclease A family member 11 (inactive), the group of Ribonuclease A family

Basic information

Region (hg38): 14:20582892-20609884

Previous symbols: [ "C14orf6" ]

Links

ENSG00000173464 ∙ NCBI:122651 ∙ ∙ HGNC:19269 ∙ Uniprot:Q8TAA1 ∙ 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 RNASE11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE11 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			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in RNASE11

This is a list of pathogenic ClinVar variants found in the RNASE11 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20583955-C-T		not specified	Uncertain significance (Jan 16, 2024)
14-20583991-T-C		not specified	Likely benign (Feb 05, 2024)
14-20584011-T-C		not specified	Uncertain significance (Apr 24, 2024)
14-20584035-C-T		not specified	Uncertain significance (Jun 26, 2023)
14-20584039-T-C		not specified	Uncertain significance (Feb 05, 2025)
14-20584042-T-C		not specified	Uncertain significance (Dec 10, 2024)
14-20584044-C-A		not specified	Uncertain significance (Oct 06, 2021)
14-20584057-C-A		not specified	Uncertain significance (Mar 08, 2025)
14-20584081-G-A		not specified	Uncertain significance (Oct 12, 2022)
14-20584089-C-T		not specified	Likely benign (Oct 08, 2024)
14-20584090-G-A		not specified	Uncertain significance (Jul 27, 2021)
14-20584098-T-C		not specified	Uncertain significance (Aug 01, 2022)
14-20584111-G-A		not specified	Uncertain significance (Jun 18, 2021)
14-20584111-G-T		not specified	Uncertain significance (Dec 21, 2022)
14-20584203-G-A		not specified	Uncertain significance (Jul 09, 2021)
14-20584216-T-G		not specified	Uncertain significance (Jan 25, 2023)
14-20584314-T-C		not specified	Uncertain significance (Jan 24, 2023)
14-20584315-T-C		not specified	Uncertain significance (Aug 15, 2024)
14-20584325-C-A		not specified	Uncertain significance (Nov 22, 2024)
14-20584373-C-G		not specified	Uncertain significance (Aug 13, 2021)
14-20584399-T-C		not specified	Uncertain significance (Jul 05, 2022)
14-20590372-C-A		not specified	Uncertain significance (Oct 03, 2024)
14-20590446-G-T		not specified	Uncertain significance (Jun 29, 2023)
14-20590468-C-A		not specified	Uncertain significance (Nov 18, 2022)
14-20590488-A-T		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE11	protein_coding	protein_coding	ENST00000610205	1	26990

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	0.133	103	107	0.964	0.00000525	1331
Missense in Polyphen		15	19.316	0.77655		286
Synonymous	-0.843	47	40.2	1.17	0.00000207	358
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

Intolerance Scores

• loftool: 0.585
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.25

Haploinsufficiency Scores

• pHI: 0.0284
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00708

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnase11

Gene ontology

• Biological process: RNA phosphodiester bond hydrolysis
• Cellular component: extracellular region
• Molecular function: nucleic acid binding;endonuclease activity;ribonuclease activity