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 ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Encephalopathy, acute, infection-induced, susceptibility to, 12	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Allergy/Immunology/Infectious; Hematologic; Neurologic; Ophthalmologic	36935417; 37191094

ClinVar

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

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		1
missense			28	3		31
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	29	4	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)
11-494925-A-G		not specified	Uncertain significance (Sep 22, 2023)
11-494945-G-T		not specified	Uncertain significance (Feb 14, 2024)
11-494958-T-C		not specified	Uncertain significance (May 31, 2023)
11-494967-A-G		not specified	Uncertain significance (Feb 15, 2023)
11-495003-G-A		not specified	Uncertain significance (Jun 06, 2022)
11-497981-G-A		RNH1-related disorder • Encephalitis, acute, infection-induced, susceptibility to, 12	Uncertain significance (Jun 28, 2019)
11-497995-G-A		not specified	Uncertain significance (Jan 16, 2024)
11-498002-C-T		not specified	Uncertain significance (Jun 24, 2022)
11-498022-C-T		not specified	Likely benign (Oct 10, 2023)
11-498023-G-A		not specified	Uncertain significance (Dec 03, 2021)
11-498116-C-T		not specified	Uncertain significance (Feb 13, 2024)
11-498117-G-A			Likely benign (Feb 01, 2023)
11-498526-A-G		Encephalitis, acute, infection-induced, susceptibility to, 12	risk factor (Aug 10, 2023)
11-498553-T-G		not specified	Uncertain significance (Jan 17, 2024)
11-498580-C-T		not specified	Uncertain significance (Oct 03, 2022)
11-498598-C-T		not specified	Uncertain significance (Dec 13, 2023)
11-498808-A-G		not specified	Uncertain significance (Jun 24, 2022)
11-498814-G-A		not specified	Uncertain significance (Dec 01, 2022)
11-498863-GCGA-TGCCCAAGGCCCAG		RNH1-related disorder • Encephalitis, acute, infection-induced, susceptibility to, 12	Uncertain significance (Jun 28, 2019)
11-498887-C-T		not specified	Likely benign (Feb 17, 2024)
11-498922-C-T		Encephalitis, acute, infection-induced, susceptibility to, 12 • not specified	Uncertain significance (Jan 23, 2023)
11-498925-C-T		not specified	Likely benign (Feb 28, 2024)
11-498935-T-G		Encephalitis, acute, infection-induced, susceptibility to, 12	risk factor (Aug 10, 2023)
11-499049-G-C		not specified	Uncertain significance (Feb 17, 2022)

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

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