RNH1
ribonuclease/angiogenin inhibitor 1
Basic information
Region (hg38): 11:494511-507300
Previous symbols: [ "RNH" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- 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) | ||
11-494958-T-C | Inborn genetic diseases | Uncertain significance (May 31, 2023) | ||
11-494967-A-G | Inborn genetic diseases | Uncertain significance (Feb 15, 2023) | ||
11-495003-G-A | Inborn genetic diseases | Uncertain significance (Jun 06, 2022) | ||
11-497981-G-A | RNH1-related condition • Encephalopathy, acute, infection-induced, susceptibility to, 12 | Uncertain significance (Jun 28, 2019) | ||
11-497995-G-A | Inborn genetic diseases | Uncertain significance (Dec 07, 2021) | ||
11-498002-C-T | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | ||
11-498023-G-A | Inborn genetic diseases | Uncertain significance (Dec 03, 2021) | ||
11-498526-A-G | Encephalopathy, acute, infection-induced, susceptibility to, 12 | risk factor (Aug 10, 2023) | ||
11-498580-C-T | Inborn genetic diseases | Uncertain significance (Oct 03, 2022) | ||
11-498808-A-G | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | ||
11-498814-G-A | Inborn genetic diseases | Uncertain significance (Dec 01, 2022) | ||
11-498863-GCGA-TGCCCAAGGCCCAG | RNH1-related condition • Encephalopathy, acute, infection-induced, susceptibility to, 12 | Uncertain significance (Jun 28, 2019) | ||
11-498922-C-T | Inborn genetic diseases • Encephalopathy, acute, infection-induced, susceptibility to, 12 | Uncertain significance (Jan 23, 2023) | ||
11-498935-T-G | Encephalopathy, acute, infection-induced, susceptibility to, 12 | risk factor (Aug 10, 2023) | ||
11-499049-G-C | Inborn genetic diseases | Uncertain significance (Feb 17, 2022) | ||
11-499081-T-C | Inborn genetic diseases | Uncertain significance (Mar 24, 2023) | ||
11-499088-C-A | Inborn genetic diseases | Uncertain significance (Apr 25, 2023) | ||
11-499195-A-G | Benign (Apr 10, 2018) | |||
11-499836-T-C | Inborn genetic diseases | Uncertain significance (Sep 06, 2022) | ||
11-499965-C-T | Inborn genetic diseases | Uncertain significance (Feb 06, 2023) | ||
11-499992-T-G | Inborn genetic diseases | Uncertain significance (Nov 08, 2022) | ||
11-499993-C-A | Encephalopathy, acute, infection-induced, susceptibility to, 12 | risk factor (Aug 10, 2023) | ||
11-502066-C-T | Inborn genetic diseases | Uncertain significance (Apr 07, 2023) | ||
11-502069-C-T | Inborn genetic diseases | Uncertain significance (May 11, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RNH1 | protein_coding | protein_coding | ENST00000534797 | 9 | 12789 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.55e-10 | 0.268 | 125668 | 0 | 47 | 125715 | 0.000187 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0905 | 284 | 280 | 1.02 | 0.0000174 | 2945 |
Missense in Polyphen | 70 | 80.657 | 0.86787 | 1013 | ||
Synonymous | -2.00 | 168 | 138 | 1.22 | 0.00000960 | 960 |
Loss of Function | 0.804 | 17 | 21.0 | 0.811 | 0.00000105 | 214 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000207 | 0.000206 |
Ashkenazi Jewish | 0.0000999 | 0.0000992 |
East Asian | 0.0000545 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000217 | 0.000211 |
Middle Eastern | 0.0000545 | 0.0000544 |
South Asian | 0.000494 | 0.000490 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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