ERP44
Basic information
Region (hg38): 9:99979185-100099052
Previous symbols: [ "TXNDC4" ]
Links
Transcripts
Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 39.
| Transcript ID | Protein ID | Coding exons | MANE Select | MANE Plus Clinical |
|---|---|---|---|---|
NM_015051.3 | NP_055866.1 | 12 | yes | - |
ENST00000262455.7 | ENSP00000262455.6 | 12 | yes | - |
ENST00000684842.1 | ENSP00000509528.1 | 5 | - | - |
ENST00000686275.1 | ENSP00000510307.1 | 5 | - | - |
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (39 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERP44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_015051.3. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 40 | 1 | 41 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 43 | 1 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ERP44 | protein_coding | protein_coding | ENST00000262455 | 12 | 119862 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 125717 | 0 | 4 | 125721 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.29 | 120 | 214 | 0.561 | 0.0000108 | 2716 |
| Missense in Polyphen | 11 | 56.806 | 0.19364 | 750 | ||
| Synonymous | -0.109 | 75 | 73.8 | 1.02 | 0.00000391 | 714 |
| Loss of Function | 4.05 | 2 | 23.0 | 0.0871 | 0.00000124 | 287 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.000101 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000884 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000663 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum. {ECO:0000269|PubMed:11847130, ECO:0000269|PubMed:14517240}.;
- Pathway
- Neutrophil degranulation;Innate Immune System;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.134
Intolerance Scores
- loftool
- 0.416
- rvis_EVS
- -0.07
- rvis_percentile_EVS
- 48.12
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.955
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Zebrafish Information Network
- Gene name
- erp44
- Affected structure
- endocardial cushion
- Phenotype tag
- abnormal
- Phenotype quality
- lacks parts or has fewer parts of type
Gene ontology
- Biological process
- protein folding;response to unfolded protein;glycoprotein metabolic process;response to endoplasmic reticulum stress;neutrophil degranulation;cell redox homeostasis
- Cellular component
- extracellular region;endoplasmic reticulum lumen;endoplasmic reticulum membrane;endoplasmic reticulum-Golgi intermediate compartment;cell surface;specific granule lumen;extracellular exosome
- Molecular function
- protein disulfide isomerase activity;protein binding