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GeneBe

RNASE4

ribonuclease A family member 4, the group of Ribonuclease A family

Basic information

Region (hg38): 14:20684559-20701216

Links

ENSG00000258818NCBI:6038OMIM:601030HGNC:10047Uniprot:P34096AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNASE4 gene.

  • not provided (45 variants)
  • Amyotrophic lateral sclerosis type 9 (25 variants)
  • Inborn genetic diseases (15 variants)
  • not specified (6 variants)
  • ANG-related condition (5 variants)
  • Amyotrophic lateral sclerosis (1 variants)
  • Frontotemporal dementia (1 variants)
  • Amyotrophic lateral sclerosis type 10 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE4 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
3
clinvar
3
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
?
0
non coding
?
1
clinvar
36
clinvar
17
clinvar
7
clinvar
61
Total 0 1 39 17 7

Highest pathogenic variant AF is 0.00000657

Variants in RNASE4

This is a list of pathogenic ClinVar variants found in the RNASE4 region.

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

Position Type Phenotype Significance ClinVar
14-20684609-A-G Amyotrophic lateral sclerosis type 9 Uncertain significance (Apr 27, 2017)881717
14-20684662-G-C Amyotrophic lateral sclerosis type 9 Uncertain significance (Jan 13, 2018)312770
14-20684736-T-C Amyotrophic lateral sclerosis type 9 Benign (Jan 13, 2018)312771
14-20684769-A-C Amyotrophic lateral sclerosis type 9 Likely benign (Jan 12, 2018)312772
14-20693222-A-G Benign (Jul 03, 2018)1269594
14-20693226-T-G Benign (Aug 11, 2018)1286899
14-20693325-G-C Benign (Aug 17, 2018)1288180
14-20693471-G-A Likely benign (May 26, 2019)1192726
14-20693543-G-A Amyotrophic lateral sclerosis type 9 Uncertain significance (Jan 13, 2018)882864
14-20693567-G-A Amyotrophic lateral sclerosis type 9 • Amyotrophic lateral sclerosis type 10 • ANG-related condition Conflicting classifications of pathogenicity (Oct 21, 2022)807060
14-20693600-C-CGTGCTG Uncertain significance (Nov 17, 2023)2197000
14-20693602-T-C Amyotrophic lateral sclerosis type 9 Uncertain significance (Apr 27, 2017)882865
14-20693617-T-A Uncertain significance (Oct 01, 2017)807061
14-20693625-C-T ANG-related condition Uncertain significance (Jun 01, 2023)804533
14-20693626-C-A Amyotrophic lateral sclerosis type 9 Benign/Likely benign (Apr 20, 2022)882866
14-20693626-C-T Amyotrophic lateral sclerosis type 9 Uncertain significance (Jan 26, 2022)882867
14-20693649-A-G Uncertain significance (Jun 19, 2022)2008216
14-20693658-C-T Uncertain significance (Jun 01, 2016)807062
14-20693660-C-A Inborn genetic diseases Uncertain significance (Dec 07, 2021)2265845
14-20693663-C-T Amyotrophic lateral sclerosis type 9 • Inborn genetic diseases Benign/Likely benign (Oct 07, 2022)312773
14-20693669-C-G Likely benign (Apr 02, 2022)2193037
14-20693671-A-T Amyotrophic lateral sclerosis type 9 Pathogenic (Apr 01, 2006)18073
14-20693674-A-G Uncertain significance (Oct 17, 2022)1381736
14-20693675-C-T Likely benign (Aug 29, 2023)2756332
14-20693677-A-G Inborn genetic diseases Uncertain significance (Jan 19, 2022)1730747

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNASE4protein_codingprotein_codingENST00000555835 116503
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001760.2801257211231257450.0000954
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.03188988.21.010.00000549967
Missense in Polyphen2327.550.83484357
Synonymous-1.224233.01.270.00000184291
Loss of Function-0.52753.881.292.52e-741

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009040.0000904
Ashkenazi Jewish0.0002980.000298
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0001320.000123
Middle Eastern0.00005440.0000544
South Asian0.00006530.0000653
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: This RNase has marked specificity towards the 3' side of uridine nucleotides.;

Intolerance Scores

loftool
rvis_EVS
0.93
rvis_percentile_EVS
89.66

Haploinsufficiency Scores

pHI
0.0547
hipred
N
hipred_score
0.170
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.983

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rnase4
Phenotype

Gene ontology

Biological process
mRNA cleavage;RNA phosphodiester bond hydrolysis, endonucleolytic
Cellular component
extracellular region
Molecular function
nucleic acid binding;ribonuclease A activity;ribonuclease activity