ERI3

ERI1 exoribonuclease family member 3, the group of Exonucleases

Basic information

Region (hg38): 1:44221070-44355260

Previous symbols: [ "PRNPIP" ]

Links

ENSG00000117419 ∙ NCBI:79033 ∙ OMIM:609917 ∙ HGNC:17276 ∙ Uniprot:O43414 ∙ 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 ERI3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERI3 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						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in ERI3

This is a list of pathogenic ClinVar variants found in the ERI3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-44221595-C-T		not specified	Uncertain significance (Nov 03, 2023)
1-44308382-G-A		not specified	Uncertain significance (Sep 11, 2024)
1-44339053-G-A		not specified	Uncertain significance (Oct 06, 2022)
1-44339068-C-T		not specified	Uncertain significance (Jul 13, 2021)
1-44339220-T-C		not specified	Uncertain significance (Nov 21, 2024)
1-44339223-G-A		not specified	Uncertain significance (Oct 26, 2021)
1-44339314-C-A		not specified	Uncertain significance (Jun 12, 2023)
1-44354938-G-C		not specified	Uncertain significance (Jun 05, 2023)
1-44354962-G-A		not specified	Uncertain significance (Mar 16, 2024)
1-44354965-A-C		not specified	Uncertain significance (Mar 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERI3	protein_coding	protein_coding	ENST00000372257	9	134191

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00396	0.989	125742	0	6	125748	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.20	102	187	0.546	0.0000103	2187
Missense in Polyphen		13	50.553	0.25716		573
Synonymous	-0.0312	76	75.7	1.00	0.00000496	664
Loss of Function	2.35	7	17.7	0.396	8.15e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.311
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.291
• hipred: Y
• hipred_score: 0.697
• ghis: 0.647

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.464

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eri3

Gene ontology

• Biological process: exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);DNA catabolic process, exonucleolytic
• Molecular function: 3'-5'-exoribonuclease activity;RNA binding;metal ion binding