UCK1
Basic information
Region (hg38): 9:131523801-131531264
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 UCK1 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 UCK1
This is a list of pathogenic ClinVar variants found in the UCK1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-131525065-A-G | not specified | Uncertain significance (Aug 22, 2023) | ||
| 9-131525125-C-T | not specified | Uncertain significance (Oct 31, 2023) | ||
| 9-131525134-C-A | not specified | Uncertain significance (Feb 12, 2024) | ||
| 9-131525147-A-G | not specified | Uncertain significance (Apr 09, 2024) | ||
| 9-131525204-C-T | not specified | Uncertain significance (Jan 23, 2023) | ||
| 9-131528978-A-G | not specified | Uncertain significance (Jun 11, 2021) | ||
| 9-131529241-G-A | not specified | Uncertain significance (Apr 05, 2023) | ||
| 9-131529256-G-A | not specified | Uncertain significance (Feb 22, 2023) | ||
| 9-131529263-C-G | not specified | Uncertain significance (Dec 15, 2022) | ||
| 9-131529541-G-C | not specified | Uncertain significance (Oct 05, 2021) | ||
| 9-131530536-G-A | not specified | Uncertain significance (May 01, 2024) | ||
| 9-131530559-G-C | not specified | Uncertain significance (May 02, 2024) | ||
| 9-131531072-C-T | not specified | Uncertain significance (May 26, 2022) | ||
| 9-131531116-T-C | not specified | Uncertain significance (Apr 04, 2023) | ||
| 9-131531161-C-A | not specified | Uncertain significance (Jan 29, 2024) | ||
| 9-131531162-C-T | not specified | Uncertain significance (Oct 27, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| UCK1 | protein_coding | protein_coding | ENST00000372211 | 7 | 7468 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000102 | 0.808 | 125728 | 0 | 20 | 125748 | 0.0000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.833 | 137 | 167 | 0.819 | 0.0000104 | 1832 |
| Missense in Polyphen | 47 | 58.266 | 0.80665 | 608 | ||
| Synonymous | -0.506 | 76 | 70.6 | 1.08 | 0.00000454 | 551 |
| Loss of Function | 1.29 | 10 | 15.5 | 0.646 | 9.85e-7 | 160 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000186 | 0.000185 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000141 | 0.000141 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4- thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)- benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5- methylcytidine, and N(4)-anisoylcytidine.;
- Pathway
- Pyrimidine metabolism - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Fluoropyrimidine Pathway, Pharmacokinetics;Fluoropyrimidine Activity;Pyrimidine metabolism;Metabolism of nucleotides;Metabolism;Pyrimidine salvage;Nucleotide salvage;Pyrimidine nucleotides nucleosides metabolism;pyrimidine ribonucleosides salvage I
(Consensus)
Recessive Scores
- pRec
- 0.166
Intolerance Scores
- loftool
- 0.350
- rvis_EVS
- 0.02
- rvis_percentile_EVS
- 55.22
Haploinsufficiency Scores
- pHI
- 0.134
- hipred
- N
- hipred_score
- 0.411
- ghis
- 0.416
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.487
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Uck1
- Phenotype
Gene ontology
- Biological process
- phosphorylation;pyrimidine nucleoside salvage;UMP salvage;CTP salvage
- Cellular component
- cytosol
- Molecular function
- ATP binding;kinase activity;nucleoside kinase activity