RNASE7

ribonuclease A family member 7, the group of Ribonuclease A family

Basic information

Region (hg38): 14:21042316-21044234

Links

ENSG00000165799 ∙ NCBI:84659 ∙ OMIM:612484 ∙ HGNC:19278 ∙ Uniprot:Q9H1E1 ∙ 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 RNASE7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE7 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			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in RNASE7

This is a list of pathogenic ClinVar variants found in the RNASE7 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-21043068-G-C		not specified	Uncertain significance (Jun 29, 2022)
14-21043182-C-T		not specified	Uncertain significance (Aug 11, 2024)
14-21043183-G-A		not specified	Uncertain significance (Jan 18, 2025)
14-21043193-C-G		not specified	Uncertain significance (Apr 30, 2024)
14-21043257-G-A		not specified	Likely benign (Jun 03, 2022)
14-21043257-G-T		not specified	Uncertain significance (Jul 17, 2023)
14-21043272-G-A		not specified	Uncertain significance (Nov 03, 2023)
14-21043314-A-T		not specified	Uncertain significance (Mar 05, 2025)
14-21043421-G-C		not specified	Uncertain significance (Oct 12, 2021)
14-21043452-A-G		not specified	Uncertain significance (Feb 05, 2025)
14-21043459-T-C		not specified	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE7	protein_coding	protein_coding	ENST00000298690	1	2009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.116	0.619	125603	0	2	125605	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.435	74	85.3	0.868	0.00000448	1018
Missense in Polyphen		10	17.712	0.56458		261
Synonymous	-0.441	40	36.6	1.09	0.00000214	306
Loss of Function	0.368	1	1.48	0.674	6.32e-8	16

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
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: Exhibits a potent RNase activity (PubMed:12244054, PubMed:12527768, PubMed:17150966). Has broad-spectrum antimicrobial activity against many pathogenic microorganisms and remarkably potent activity (lethal dose of 90% < 30 nM) against a vancomycin resistant Enterococcus faecium (PubMed:12244054, PubMed:12527768, PubMed:25075772, PubMed:17150966). Causes loss of bacterial membrane integrity (PubMed:17150966). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:17150966). {ECO:0000269|PubMed:12244054, ECO:0000269|PubMed:12527768, ECO:0000269|PubMed:17150966, ECO:0000269|PubMed:25075772}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.0936

Intolerance Scores

• loftool: 0.615
• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.43

Haploinsufficiency Scores

• pHI: 0.117
• 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: 0.198

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rae1
• Phenotype: neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; skeleton phenotype; vision/eye phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: antimicrobial humoral response;antibacterial humoral response;innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;defense response to fungus;membrane disruption in other organism;antimicrobial humoral immune response mediated by antimicrobial peptide;RNA phosphodiester bond hydrolysis
• Cellular component: extracellular region;extracellular space;cytoplasm
• Molecular function: lipopolysaccharide binding;nucleic acid binding;endonuclease activity;ribonuclease activity;peptidoglycan binding