RNASE1

ribonuclease A family member 1, pancreatic, the group of Ribonuclease A family

Basic information

Region (hg38): 14:20801227-20802855

Previous symbols: [ "RNS1" ]

Links

ENSG00000129538 ∙ NCBI:6035 ∙ OMIM:180440 ∙ HGNC:10044 ∙ Uniprot:P07998 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNASE1 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE1 gene is commonly pathogenic or not.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice variant						0
non coding						0
Total	0	0	2	0	0

Variants in RNASE1

This is a list of pathogenic ClinVar variants found in the RNASE1 region.

Position	Type	Phenotype	Significance	ClinVar
14-20801665-A-G		Inborn genetic diseases	Uncertain significance (Feb 11, 2022)
14-20801723-T-G		Inborn genetic diseases	Uncertain significance (Jan 23, 2023)
14-20801890-C-T		Inborn genetic diseases	Uncertain significance (Dec 14, 2021)
14-20801920-C-A		Inborn genetic diseases	Uncertain significance (Jan 24, 2023)
14-20801971-G-A		Inborn genetic diseases	Uncertain significance (Jun 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE1	protein_coding	protein_coding	ENST00000397967	1	2051

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0256	0.578	125702	0	5	125707	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.124	88	91.3	0.964	0.00000570	1026
Missense in Polyphen		11	19.31	0.56965		269
Synonymous	0.798	30	36.1	0.831	0.00000194	314
Loss of Function	0.0236	2	2.04	0.982	8.71e-8	22

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double-stranded RNA. {ECO:0000269|PubMed:17350650}.

Recessive Scores

• pRec: 0.222

Intolerance Scores

• loftool: 0.364
• rvis_EVS: 0.7
• rvis_percentile_EVS: 85.42

Haploinsufficiency Scores

• pHI: 0.0961
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.635

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnase1

Gene ontology

• Biological process: defense response to virus;RNA phosphodiester bond hydrolysis;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: extracellular exosome
• Molecular function: nucleic acid binding;ribonuclease A activity;ribonuclease activity;protein binding