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

ENSG00000196678NCBI:112479HGNC:30541Uniprot:A8K979AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
3
clinvar
26
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
26
clinvar
2
clinvar
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)2462129
16-20780774-C-G not specified Uncertain significance (Feb 06, 2023)2480887
16-20780800-C-T not specified Uncertain significance (Jul 14, 2021)2369873
16-20780854-G-C not specified Uncertain significance (Dec 26, 2023)3140557
16-20780974-G-C not specified Uncertain significance (Apr 25, 2022)2226967
16-20780994-C-G not specified Uncertain significance (Jan 10, 2023)3140562
16-20781017-T-A not specified Uncertain significance (Jul 14, 2022)2301958
16-20781024-C-T not specified Uncertain significance (Oct 05, 2023)3140568
16-20781025-G-A Likely benign (Feb 01, 2024)3026207
16-20781048-G-T not specified Uncertain significance (Feb 06, 2024)3140570
16-20781062-C-T not specified Uncertain significance (Oct 26, 2022)2319655
16-20781063-C-T not specified Uncertain significance (May 27, 2022)2379701
16-20781075-G-A not specified Uncertain significance (Jan 23, 2024)3140581
16-20781708-A-T not specified Uncertain significance (May 20, 2024)3263217
16-20781724-C-T not specified Uncertain significance (Dec 16, 2023)3140584
16-20781756-T-C not specified Uncertain significance (Sep 01, 2021)2247648
16-20781760-G-A not specified Uncertain significance (Apr 01, 2024)3263148
16-20785073-T-C not specified Uncertain significance (Apr 17, 2023)2537351
16-20786088-G-C not specified Uncertain significance (Nov 08, 2022)2324723
16-20786096-T-G not specified Uncertain significance (Jan 07, 2022)2348798
16-20786126-A-G not specified Uncertain significance (Jun 16, 2024)3263221
16-20786136-C-T not specified Uncertain significance (Jun 05, 2023)2517691
16-20790660-G-A not specified Uncertain significance (Nov 07, 2022)2322831
16-20790686-G-A not specified Likely benign (May 24, 2023)2550952
16-20792005-A-C not specified Uncertain significance (Nov 17, 2022)2326957

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ERI2protein_codingprotein_codingENST00000357967 9120157
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.02e-100.8251256680721257400.000286
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.502603380.7700.00001564534
Missense in Polyphen6489.4780.715261143
Synonymous2.85801200.6690.000005811282
Loss of Function1.661928.60.6640.00000130403

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007040.000704
Ashkenazi Jewish0.000.00
East Asian0.0005530.000544
Finnish0.00009240.0000924
European (Non-Finnish)0.0002210.000220
Middle Eastern0.0005530.000544
South Asian0.0003350.000327
Other0.0004930.000489

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Eri2
Phenotype

Gene ontology

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