RNASE10

ribonuclease A family member 10 (inactive), the group of Ribonuclease A family

Basic information

Region (hg38): 14:20505537-20513884

Links

ENSG00000182545 ∙ NCBI:338879 ∙ ∙ HGNC:19275 ∙ Uniprot:Q5GAN6 ∙ 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 RNASE10 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE10 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in RNASE10

This is a list of pathogenic ClinVar variants found in the RNASE10 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20510479-T-C		not specified	Uncertain significance (Dec 19, 2023)
14-20510482-A-G		not specified	Uncertain significance (Aug 30, 2022)
14-20510597-T-A		not specified	Uncertain significance (Apr 26, 2023)
14-20510616-T-C		not specified	Uncertain significance (Sep 26, 2023)
14-20510671-C-T		not specified	Uncertain significance (Oct 03, 2022)
14-20510694-G-A		not specified	Uncertain significance (Aug 02, 2022)
14-20510821-G-A		not specified	Uncertain significance (Jul 20, 2021)
14-20510836-T-C		not specified	Uncertain significance (Oct 06, 2022)
14-20510919-G-A		not specified	Uncertain significance (Dec 19, 2022)
14-20510935-C-T		not specified	Uncertain significance (Mar 17, 2023)
14-20510977-G-T		not specified	Uncertain significance (Aug 17, 2021)
14-20511043-A-G		not specified	Uncertain significance (Apr 27, 2023)
14-20511075-A-T		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE10	protein_coding	protein_coding	ENST00000328444	1	5633

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00197	0.513	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.646	134	115	1.17	0.00000548	1432
Missense in Polyphen		41	31.657	1.2951		429
Synonymous	0.443	41	44.8	0.916	0.00000235	405
Loss of Function	0.138	4	4.31	0.928	1.80e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
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: Secreted proximal epididymal protein required for post- testicular sperm maturation and male fertility. May be involved in sperm adhesion to the egg zona pellucida. Does not have ribonuclease activity (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0720

Intolerance Scores

• loftool: 0.556
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.0925
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0277

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnase10
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; immune system phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: single fertilization;positive regulation of cell-cell adhesion;heterotypic cell-cell adhesion;regulation of fertilization;RNA phosphodiester bond hydrolysis;positive regulation of flagellated sperm motility
• Cellular component: extracellular region
• Molecular function: nucleic acid binding;ribonuclease activity