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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:P13489AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Encephalopathy, acute, infection-induced, susceptibiliyt to, 12ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingAllergy/Immunology/Infectious; Hematologic; Neurologic; Ophthalmologic36935417; 37191094

ClinVar

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

  • Inborn genetic diseases (21 variants)
  • Encephalitis, acute, infection-induced, susceptibility to, 12 (3 variants)
  • not provided (2 variants)
  • RNH1-related condition (2 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.

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
1
clinvar
1
missense
22
clinvar
22
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 23 1 1

Variants in RNH1

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

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

Position Type Phenotype Significance ClinVar
11-494741-G-A not specified Uncertain significance (Feb 15, 2023)2484850
11-494925-A-G not specified Uncertain significance (Sep 22, 2023)3155506
11-494945-G-T not specified Uncertain significance (Feb 14, 2024)3155505
11-494958-T-C not specified Uncertain significance (May 31, 2023)2518766
11-494967-A-G not specified Uncertain significance (Feb 15, 2023)2484435
11-495003-G-A not specified Uncertain significance (Jun 06, 2022)2294170
11-497981-G-A RNH1-related condition • Encephalitis, acute, infection-induced, susceptibility to, 12 Uncertain significance (Jun 28, 2019)988661
11-497995-G-A not specified Uncertain significance (Jan 16, 2024)2341575
11-498002-C-T not specified Uncertain significance (Jun 24, 2022)2341448
11-498022-C-T not specified Likely benign (Oct 10, 2023)3155504
11-498023-G-A not specified Uncertain significance (Dec 03, 2021)2409872
11-498116-C-T not specified Uncertain significance (Feb 13, 2024)3155514
11-498117-G-A Likely benign (Feb 01, 2023)2641053
11-498526-A-G Encephalitis, acute, infection-induced, susceptibility to, 12 risk factor (Aug 10, 2023)2575201
11-498553-T-G not specified Uncertain significance (Jan 17, 2024)3155512
11-498580-C-T not specified Uncertain significance (Oct 03, 2022)2212542
11-498598-C-T not specified Uncertain significance (Dec 13, 2023)3155511
11-498808-A-G not specified Uncertain significance (Jun 24, 2022)2341461
11-498814-G-A not specified Uncertain significance (Dec 01, 2022)2229060
11-498863-GCGA-TGCCCAAGGCCCAG RNH1-related condition • Encephalitis, acute, infection-induced, susceptibility to, 12 Uncertain significance (Jun 28, 2019)988660
11-498887-C-T not specified Likely benign (Feb 17, 2024)3155510
11-498922-C-T Encephalitis, acute, infection-induced, susceptibility to, 12 • not specified Uncertain significance (Jan 23, 2023)2457668
11-498925-C-T not specified Likely benign (Feb 28, 2024)3155509
11-498935-T-G Encephalitis, acute, infection-induced, susceptibility to, 12 risk factor (Aug 10, 2023)2575198
11-499049-G-C not specified Uncertain significance (Feb 17, 2022)2277745

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