UXT
ubiquitously expressed prefoldin like chaperone, the group of Prefoldin subunits
Basic information
Region (hg38): X:47651796-47659180
Links
Phenotypes
GenCC
Source:
No genCC data.
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 UXT 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 9 | 0 | 0 |
Variants in UXT
This is a list of pathogenic ClinVar variants found in the UXT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-47652110-T-C | not specified | Uncertain significance (Jul 11, 2023) | ||
| X-47657246-A-G | not specified | Uncertain significance (Feb 23, 2023) | ||
| X-47657618-A-G | not specified | Uncertain significance (Apr 15, 2024) | ||
| X-47657846-C-T | not specified | Uncertain significance (Oct 25, 2023) | ||
| X-47658843-G-T | not specified | Uncertain significance (Dec 23, 2022) | ||
| X-47658855-T-C | not specified | Uncertain significance (Aug 26, 2024) | ||
| X-47658866-T-C | not specified | Uncertain significance (Feb 03, 2025) | ||
| X-47658872-C-T | not specified | Uncertain significance (Mar 20, 2024) | ||
| X-47658890-G-T | not specified | Uncertain significance (Mar 06, 2025) | ||
| X-47658924-C-A | not specified | Uncertain significance (Jan 26, 2022) | ||
| X-47658947-G-C | not specified | Uncertain significance (Oct 12, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| UXT | protein_coding | protein_coding | ENST00000335890 | 6 | 7364 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.863 | 0.135 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.693 | 44 | 59.0 | 0.746 | 0.00000421 | 1094 |
| Missense in Polyphen | 3 | 15.751 | 0.19047 | 358 | ||
| Synonymous | 0.115 | 23 | 23.7 | 0.970 | 0.00000165 | 327 |
| Loss of Function | 2.36 | 0 | 6.51 | 0.00 | 5.19e-7 | 112 |
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 | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in gene transcription regulation (PubMed:28106301, PubMed:21730289). Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription (PubMed:11854421, PubMed:21730289). Together with URI1, associates with chromatin to the NKX3-1 promoter region (PubMed:21730289). Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm (PubMed:28106301). May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity (PubMed:17620405, PubMed:21307340). Potential component of mitochondrial-associated LRPPRC, a multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling (PubMed:17554592). Increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through its association with LRPPRC (PubMed:17554592). Suppresses cell transformation and it might mediate this function by interaction and inhibition of the biological activity of cell proliferation and survival stimulatory factors like MECOM (PubMed:17635584). {ECO:0000269|PubMed:11827465, ECO:0000269|PubMed:11854421, ECO:0000269|PubMed:16221885, ECO:0000269|PubMed:17554592, ECO:0000269|PubMed:17620405, ECO:0000269|PubMed:17635584, ECO:0000269|PubMed:21307340, ECO:0000269|PubMed:21730289, ECO:0000269|PubMed:28106301}.;
- Pathway
- Gene expression (Transcription);Transcriptional Regulation by E2F6;Generic Transcription Pathway;RNA Polymerase II Transcription;E2F transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.303
Intolerance Scores
- loftool
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.611
- hipred
- Y
- hipred_score
- 0.775
- ghis
- 0.621
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Uxt
- Phenotype
- cellular phenotype; endocrine/exocrine gland 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); reproductive system phenotype;
Zebrafish Information Network
- Gene name
- uxt
- Affected structure
- endothelial tip cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased rate
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;microtubule cytoskeleton organization;apoptotic process;centrosome cycle;mitochondrion transport along microtubule;negative regulation of G0 to G1 transition
- Cellular component
- chromatin;spindle pole;gamma-tubulin complex;nucleus;nucleoplasm;cytoplasm;centrosome;cytoskeleton
- Molecular function
- chromatin binding;transcription coregulator activity;transcription corepressor activity;protein binding;microtubule binding;beta-tubulin binding;actin filament binding