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GeneBe

RNASE1

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

Basic information

Region (hg38): 14:20801227-20802855

Previous symbols: [ "RNS1" ]

Links

ENSG00000129538NCBI:6035OMIM:180440HGNC:10044Uniprot:P07998AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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 (5 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.

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
5
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 5 0 0

Variants in RNASE1

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

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

Position Type Phenotype Significance ClinVar
14-20801665-A-G Inborn genetic diseases Uncertain significance (Feb 11, 2022)2218491
14-20801723-T-G Inborn genetic diseases Uncertain significance (Jan 23, 2023)2477788
14-20801890-C-T Inborn genetic diseases Uncertain significance (Dec 14, 2021)2365237
14-20801920-C-A Inborn genetic diseases Uncertain significance (Jan 24, 2023)2478412
14-20801971-G-A Inborn genetic diseases Uncertain significance (Jun 22, 2023)2605305

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNASE1protein_codingprotein_codingENST00000397967 12051
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02560.578125702051257070.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1248891.30.9640.000005701026
Missense in Polyphen1119.310.56965269
Synonymous0.7983036.10.8310.00000194314
Loss of Function0.023622.040.9828.71e-822

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008670.0000867
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000008800.00000880
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

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
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rnase1
Phenotype

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