RNH1

ribonuclease/angiogenin inhibitor 1

Basic information

Region (hg38): 11:494511-507300

Previous symbols: [ "RNH" ]

Links

ENSG00000023191

∙ NCBI:6050 ∙ OMIM:173320 ∙ HGNC:10074 ∙ Uniprot:P13489 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

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	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

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: 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

	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