ERO1A
Basic information
Region (hg38): 14:52639915-52695900
Previous symbols: [ "ERO1L" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERO1A 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 | 1 | |||||
missense | 14 | 14 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 3 | 3 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 14 | 0 | 1 |
Variants in ERO1A
This is a list of pathogenic ClinVar variants found in the ERO1A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-52646210-A-G | Benign (Jun 06, 2018) | |||
14-52646243-T-G | not specified | Uncertain significance (Jan 08, 2024) | ||
14-52646418-T-C | not specified | Uncertain significance (Jun 21, 2023) | ||
14-52652285-T-C | not specified | Uncertain significance (Jun 23, 2023) | ||
14-52653116-C-A | not specified | Uncertain significance (Feb 28, 2023) | ||
14-52653146-A-T | not specified | Uncertain significance (Jun 02, 2024) | ||
14-52653153-C-A | not specified | Uncertain significance (Jul 05, 2023) | ||
14-52653184-C-T | not specified | Uncertain significance (Jun 13, 2022) | ||
14-52653255-C-A | not specified | Uncertain significance (Jul 12, 2022) | ||
14-52658007-G-C | not specified | Uncertain significance (Jul 12, 2022) | ||
14-52658016-A-C | Benign (Aug 04, 2017) | |||
14-52658149-C-T | Benign (Aug 04, 2017) | |||
14-52663830-C-G | not specified | Uncertain significance (Feb 10, 2022) | ||
14-52666490-G-C | not specified | Uncertain significance (Aug 26, 2022) | ||
14-52671708-A-G | Benign (Aug 04, 2017) | |||
14-52671846-A-G | not specified | Uncertain significance (Nov 22, 2023) | ||
14-52678444-G-A | not specified | Uncertain significance (May 10, 2024) | ||
14-52695383-C-G | not specified | Uncertain significance (Nov 08, 2022) | ||
14-52695390-G-C | not specified | Uncertain significance (Dec 06, 2022) | ||
14-52695433-G-C | not specified | Uncertain significance (May 08, 2024) | ||
14-52695472-C-T | not specified | Uncertain significance (Nov 03, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ERO1A | protein_coding | protein_coding | ENST00000395686 | 16 | 55985 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.809 | 0.191 | 125726 | 0 | 15 | 125741 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.30 | 169 | 224 | 0.756 | 0.0000105 | 3088 |
Missense in Polyphen | 67 | 101.28 | 0.66153 | 1343 | ||
Synonymous | 0.629 | 70 | 77.0 | 0.909 | 0.00000378 | 795 |
Loss of Function | 4.25 | 6 | 31.9 | 0.188 | 0.00000160 | 401 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000912 | 0.0000905 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000545 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000624 | 0.0000615 |
Middle Eastern | 0.0000545 | 0.0000544 |
South Asian | 0.000169 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin. Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. {ECO:0000269|PubMed:10671517, ECO:0000269|PubMed:10970843, ECO:0000269|PubMed:11707400, ECO:0000269|PubMed:12403808, ECO:0000269|PubMed:18833192, ECO:0000269|PubMed:18971943, ECO:0000269|PubMed:23027870}.;
- Pathway
- Protein processing in endoplasmic reticulum - Homo sapiens (human);Vibrio cholerae infection - Homo sapiens (human);Detoxification of Reactive Oxygen Species;Peptide hormone metabolism;Cellular responses to stress;Metabolism of proteins;Cellular responses to external stimuli;Insulin processing
(Consensus)
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- loftool
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.53
Haploinsufficiency Scores
- pHI
- 0.243
- hipred
- Y
- hipred_score
- 0.540
- ghis
- 0.470
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Ero1l
- Phenotype
- hematopoietic system phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- protein folding;cellular protein modification process;response to temperature stimulus;animal organ senescence;4-hydroxyproline metabolic process;protein maturation by protein folding;extracellular matrix organization;endoplasmic reticulum unfolded protein response;cellular response to oxidative stress;protein folding in endoplasmic reticulum;response to endoplasmic reticulum stress;cell redox homeostasis;brown fat cell differentiation;chaperone cofactor-dependent protein refolding;release of sequestered calcium ion into cytosol;oxidation-reduction process;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;cellular response to hypoxia
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum lumen;endoplasmic reticulum membrane;membrane;dendrite;intracellular membrane-bounded organelle
- Molecular function
- protein disulfide isomerase activity;protein binding;protein disulfide oxidoreductase activity;disulfide oxidoreductase activity;oxidoreductase activity;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor