UBE2J2
Basic information
Region (hg38): 1:1253909-1273864
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 UBE2J2 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 | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 0 |
Variants in UBE2J2
This is a list of pathogenic ClinVar variants found in the UBE2J2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-1255213-G-A | not specified | Uncertain significance (Sep 23, 2023) | ||
| 1-1255364-C-T | not specified | Uncertain significance (Oct 25, 2023) | ||
| 1-1255393-A-G | not specified | Uncertain significance (Sep 25, 2023) | ||
| 1-1255399-G-A | not specified | Uncertain significance (Jun 07, 2024) | ||
| 1-1255406-C-G | not specified | Uncertain significance (Mar 23, 2023) | ||
| 1-1255406-C-T | not specified | Uncertain significance (Nov 14, 2024) | ||
| 1-1255418-C-G | not specified | Uncertain significance (Dec 21, 2022) | ||
| 1-1255460-C-G | not specified | Uncertain significance (Nov 14, 2023) | ||
| 1-1255477-T-C | not specified | Uncertain significance (Apr 24, 2024) | ||
| 1-1256050-C-T | not specified | Uncertain significance (Oct 20, 2024) | ||
| 1-1257095-G-A | not specified | Uncertain significance (Oct 08, 2024) | ||
| 1-1267929-G-C | not specified | Uncertain significance (Apr 18, 2024) | ||
| 1-1267964-G-A | not specified | Uncertain significance (Jan 24, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| UBE2J2 | protein_coding | protein_coding | ENST00000400930 | 7 | 19977 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.910 | 0.0901 | 124247 | 0 | 2 | 124249 | 0.00000805 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.79 | 100 | 165 | 0.607 | 0.0000103 | 1807 |
| Missense in Polyphen | 15 | 52.607 | 0.28513 | 582 | ||
| Synonymous | -0.205 | 77 | 74.7 | 1.03 | 0.00000566 | 536 |
| Loss of Function | 2.96 | 1 | 12.1 | 0.0824 | 6.01e-7 | 157 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000401 | 0.0000401 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000890 | 0.00000889 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). {ECO:0000255|PROSITE-ProRule:PRU00388}.;
- Pathway
- Ubiquitin mediated proteolysis - Homo sapiens (human);Protein processing in endoplasmic reticulum - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Parkin-Ubiquitin Proteasomal System pathway;Parkinsons Disease Pathway;Post-translational protein modification;protein ubiquitylation;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Protein ubiquitination;E3 ubiquitin ligases ubiquitinate target proteins
(Consensus)
Recessive Scores
- pRec
- 0.0940
Intolerance Scores
- loftool
- 0.304
- rvis_EVS
- -0.41
- rvis_percentile_EVS
- 26.23
Haploinsufficiency Scores
- pHI
- 0.109
- hipred
- Y
- hipred_score
- 0.696
- ghis
- 0.656
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.630
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ube2j2
- Phenotype
Gene ontology
- Biological process
- protein polyubiquitination;response to unfolded protein;protein ubiquitination;ubiquitin-dependent ERAD pathway;positive regulation of protein targeting to mitochondrion
- Cellular component
- ubiquitin ligase complex;endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane
- Molecular function
- ATP binding;ubiquitin protein ligase binding;ubiquitin conjugating enzyme activity