RNASE4

ribonuclease A family member 4, the group of Ribonuclease A family

Basic information

Region (hg38): 14:20684560-20701216

Links

ENSG00000258818 ∙ NCBI:6038 ∙ OMIM:601030 ∙ HGNC:10047 ∙ Uniprot:P34096 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNASE4 gene.

• not_provided (54 variants)
• not_specified (29 variants)
• Amyotrophic_lateral_sclerosis_type_9 (28 variants)
• Inborn_genetic_diseases (18 variants)
• ANG-related_disorder (12 variants)
• Frontotemporal_dementia (1 variants)
• Amyotrophic_lateral_sclerosis_type_10 (1 variants)
• Amyotrophic_lateral_sclerosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002937.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			23			23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	23	0	0

Highest pathogenic variant AF is 0.000017967

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE4	protein_coding	protein_coding	ENST00000555835	1	16503

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000176	0.280	125721	1	23	125745	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0318	89	88.2	1.01	0.00000549	967
Missense in Polyphen		23	27.55	0.83484		357
Synonymous	-1.22	42	33.0	1.27	0.00000184	291
Loss of Function	-0.527	5	3.88	1.29	2.52e-7	41

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000123
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This RNase has marked specificity towards the 3' side of uridine nucleotides.

Intolerance Scores

• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.66

Haploinsufficiency Scores

• pHI: 0.0547
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.983

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rnase4

Gene ontology

• Biological process: mRNA cleavage;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: extracellular region
• Molecular function: nucleic acid binding;ribonuclease A activity;ribonuclease activity