RNH1

ribonuclease/angiogenin inhibitor 1

Basic information

Region (hg38): 11:494512-507300

Previous symbols: [ "RNH" ]

Links

ENSG00000023191

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

Phenotypes

GenCC

Source: genCC

encephalitis, acute, infection-induced, susceptibility to, 12 (Moderate), mode of inheritance: AR

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.

not_specified (81 variants)
Encephalitis,_acute,_infection-induced,_susceptibility_to,_12 (8 variants)
not_provided (2 variants)
RNH1-related_disorder (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. These statistics are base on transcript: NM_000203387.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			79 clinvar	5 clinvar		84
nonsense			1 clinvar			1
start loss			1			1
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	83	7	0

Loading clinvar variants...

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