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GeneBe

RNH1

ribonuclease/angiogenin inhibitor 1

Basic information

Region (hg38): 11:494511-507300

Previous symbols: [ "RNH" ]

Links

ENSG00000023191NCBI:6050OMIM:173320HGNC:10074Uniprot:P13489AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNH1 gene.

  • Inborn genetic diseases (13 variants)
  • RNH1-related condition (2 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNH1 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 14 14
nonsense 0
start loss 0
frameshift 1 1
inframe indel 0
splice variant 0
non coding 1 1
Total 0 0 15 0 1

Variants in RNH1

This is a list of pathogenic ClinVar variants found in the RNH1 region.

Position Type Phenotype Significance ClinVar
11-494741-G-A Inborn genetic diseases Uncertain significance (Feb 15, 2023)link
11-494958-T-C Inborn genetic diseases Uncertain significance (May 31, 2023)link
11-494967-A-G Inborn genetic diseases Uncertain significance (Feb 15, 2023)link
11-495003-G-A Inborn genetic diseases Uncertain significance (Jun 06, 2022)link
11-497981-G-A RNH1-related condition • Encephalopathy, acute, infection-induced, susceptibility to, 12 Uncertain significance (Jun 28, 2019)link
11-497995-G-A Inborn genetic diseases Uncertain significance (Dec 07, 2021)link
11-498002-C-T Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
11-498023-G-A Inborn genetic diseases Uncertain significance (Dec 03, 2021)link
11-498526-A-G Encephalopathy, acute, infection-induced, susceptibility to, 12 risk factor (Aug 10, 2023)link
11-498580-C-T Inborn genetic diseases Uncertain significance (Oct 03, 2022)link
11-498808-A-G Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
11-498814-G-A Inborn genetic diseases Uncertain significance (Dec 01, 2022)link
11-498863-GCGA-TGCCCAAGGCCCAG RNH1-related condition • Encephalopathy, acute, infection-induced, susceptibility to, 12 Uncertain significance (Jun 28, 2019)link
11-498922-C-T Inborn genetic diseases • Encephalopathy, acute, infection-induced, susceptibility to, 12 Uncertain significance (Jan 23, 2023)link
11-498935-T-G Encephalopathy, acute, infection-induced, susceptibility to, 12 risk factor (Aug 10, 2023)link
11-499049-G-C Inborn genetic diseases Uncertain significance (Feb 17, 2022)link
11-499081-T-C Inborn genetic diseases Uncertain significance (Mar 24, 2023)link
11-499088-C-A Inborn genetic diseases Uncertain significance (Apr 25, 2023)link
11-499195-A-G Benign (Apr 10, 2018)link
11-499836-T-C Inborn genetic diseases Uncertain significance (Sep 06, 2022)link
11-499965-C-T Inborn genetic diseases Uncertain significance (Feb 06, 2023)link
11-499992-T-G Inborn genetic diseases Uncertain significance (Nov 08, 2022)link
11-499993-C-A Encephalopathy, acute, infection-induced, susceptibility to, 12 risk factor (Aug 10, 2023)link
11-502066-C-T Inborn genetic diseases Uncertain significance (Apr 07, 2023)link
11-502069-C-T Inborn genetic diseases Uncertain significance (May 11, 2022)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNH1protein_codingprotein_codingENST00000534797 912789
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.55e-100.2681256680471257150.000187
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.09052842801.020.00001742945
Missense in Polyphen7080.6570.867871013
Synonymous-2.001681381.220.00000960960
Loss of Function0.8041721.00.8110.00000105214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002070.000206
Ashkenazi Jewish0.00009990.0000992
East Asian0.00005450.0000544
Finnish0.000.00
European (Non-Finnish)0.0002170.000211
Middle Eastern0.00005450.0000544
South Asian0.0004940.000490
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and ANG. May play a role in redox homeostasis. {ECO:0000269|PubMed:12578357, ECO:0000269|PubMed:14515218, ECO:0000269|PubMed:17292889}.;

Recessive Scores

pRec
0.408

Intolerance Scores

loftool
0.704
rvis_EVS
-0.15
rvis_percentile_EVS
42.23

Haploinsufficiency Scores

pHI
0.109
hipred
N
hipred_score
0.172
ghis
0.514

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.977

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rnh1
Phenotype

Gene ontology

Biological process
mRNA catabolic process;negative regulation of catalytic activity;regulation of angiogenesis
Cellular component
nucleoplasm;cytosol;angiogenin-PRI complex;extracellular exosome
Molecular function
protein binding;ribonuclease inhibitor activity