ERI2

ERI1 exoribonuclease family member 2, the group of Exonucleases|Zinc fingers GRF-type

Basic information

Region (hg38): 16:20780193-20900349

Previous symbols: [ "EXOD1" ]

Links

ENSG00000196678 ∙ NCBI:112479 ∙ ∙ HGNC:30541 ∙ Uniprot:A8K979 ∙ 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 ERI2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERI2 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			23	3		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			26	2		28
Total	0	0	49	5	0

Variants in ERI2

This is a list of pathogenic ClinVar variants found in the ERI2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-20780721-A-C		not specified	Uncertain significance (Feb 06, 2023)
16-20780774-C-G		not specified	Uncertain significance (Feb 06, 2023)
16-20780800-C-T		not specified	Uncertain significance (Jul 14, 2021)
16-20780854-G-C		not specified	Uncertain significance (Dec 26, 2023)
16-20780974-G-C		not specified	Uncertain significance (Apr 25, 2022)
16-20780994-C-G		not specified	Uncertain significance (Jan 10, 2023)
16-20781017-T-A		not specified	Uncertain significance (Jul 14, 2022)
16-20781024-C-T		not specified	Uncertain significance (Oct 05, 2023)
16-20781025-G-A			Likely benign (Feb 01, 2024)
16-20781048-G-T		not specified	Uncertain significance (Feb 06, 2024)
16-20781062-C-T		not specified	Uncertain significance (Oct 26, 2022)
16-20781063-C-T		not specified	Uncertain significance (May 27, 2022)
16-20781075-G-A		not specified	Uncertain significance (Jan 23, 2024)
16-20781708-A-T		not specified	Uncertain significance (May 20, 2024)
16-20781724-C-T		not specified	Uncertain significance (Dec 16, 2023)
16-20781756-T-C		not specified	Uncertain significance (Sep 01, 2021)
16-20781760-G-A		not specified	Uncertain significance (Apr 01, 2024)
16-20785073-T-C		not specified	Uncertain significance (Apr 17, 2023)
16-20786088-G-C		not specified	Uncertain significance (Nov 08, 2022)
16-20786096-T-G		not specified	Uncertain significance (Jan 07, 2022)
16-20786126-A-G		not specified	Uncertain significance (Jun 16, 2024)
16-20786136-C-T		not specified	Uncertain significance (Jun 05, 2023)
16-20790660-G-A		not specified	Uncertain significance (Nov 07, 2022)
16-20790686-G-A		not specified	Likely benign (May 24, 2023)
16-20792005-A-C		not specified	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERI2	protein_coding	protein_coding	ENST00000357967	9	120157

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.02e-10	0.825	125668	0	72	125740	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.50	260	338	0.770	0.0000156	4534
Missense in Polyphen		64	89.478	0.71526		1143
Synonymous	2.85	80	120	0.669	0.00000581	1282
Loss of Function	1.66	19	28.6	0.664	0.00000130	403

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000704	0.000704
Ashkenazi Jewish	0.00	0.00
East Asian	0.000553	0.000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.000553	0.000544
South Asian	0.000335	0.000327
Other	0.000493	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0705

Intolerance Scores

• loftool: 0.547
• rvis_EVS: 1.6
• rvis_percentile_EVS: 95.87

Haploinsufficiency Scores

• pHI: 0.230
• hipred: N
• hipred_score: 0.123
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.381

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eri2

Gene ontology

• Biological process: DNA metabolic process;RNA phosphodiester bond hydrolysis, exonucleolytic
• Molecular function: 3'-5'-exoribonuclease activity;nucleic acid binding;zinc ion binding;single-stranded DNA 3'-5' exodeoxyribonuclease activity