UBE2Q1
Basic information
Region (hg38): 1:154548577-154559028
Previous symbols: [ "UBE2Q" ]
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 UBE2Q1 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 | 14 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 0 | 0 |
Variants in UBE2Q1
This is a list of pathogenic ClinVar variants found in the UBE2Q1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-154551806-C-T | not specified | Uncertain significance (Dec 18, 2023) | ||
| 1-154551819-C-T | not specified | Likely benign (Apr 15, 2024) | ||
| 1-154552110-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
| 1-154552747-C-A | not specified | Uncertain significance (Dec 19, 2023) | ||
| 1-154552786-C-T | not specified | Uncertain significance (Jun 29, 2022) | ||
| 1-154558270-C-T | not specified | Uncertain significance (Jul 13, 2022) | ||
| 1-154558274-G-C | not specified | Uncertain significance (Dec 16, 2023) | ||
| 1-154558276-G-C | not specified | Uncertain significance (Jun 06, 2023) | ||
| 1-154558276-G-T | not specified | Uncertain significance (Feb 06, 2023) | ||
| 1-154558288-G-A | not specified | Uncertain significance (Mar 24, 2023) | ||
| 1-154558301-C-A | not specified | Uncertain significance (Jun 21, 2022) | ||
| 1-154558457-C-A | not specified | Uncertain significance (May 17, 2023) | ||
| 1-154558459-C-G | not specified | Uncertain significance (Jun 24, 2022) | ||
| 1-154558459-C-T | not specified | Uncertain significance (Jan 04, 2024) | ||
| 1-154558519-G-A | not specified | Uncertain significance (Jun 02, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| UBE2Q1 | protein_coding | protein_coding | ENST00000292211 | 13 | 10452 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.999 | 0.000815 | 125500 | 0 | 1 | 125501 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.35 | 70 | 205 | 0.341 | 0.0000103 | 2734 |
| Missense in Polyphen | 7 | 59.27 | 0.1181 | 705 | ||
| Synonymous | -0.905 | 93 | 82.5 | 1.13 | 0.00000468 | 806 |
| Loss of Function | 4.45 | 1 | 25.0 | 0.0400 | 0.00000124 | 295 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the covalent attachment of ubiquitin to other proteins (PubMed:22496338). May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation (By similarity). {ECO:0000250|UniProtKB:Q7TSS2, ECO:0000269|PubMed:22496338}.;
- Pathway
- Ubiquitin mediated proteolysis - Homo sapiens (human);protein ubiquitylation;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.139
- rvis_EVS
- -0.3
- rvis_percentile_EVS
- 32.62
Haploinsufficiency Scores
- pHI
- 0.470
- hipred
- Y
- hipred_score
- 0.584
- ghis
- 0.552
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.980
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ube2q1
- Phenotype
- reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- suckling behavior;embryo implantation;mating behavior;fertilization;protein ubiquitination;reproductive system development;prolactin secretion
- Cellular component
- nucleus;cytosol;filopodium
- Molecular function
- protein binding;ATP binding;ubiquitin conjugating enzyme activity