DUS2
Basic information
Region (hg38): 16:67987746-68079320
Previous symbols: [ "DUS2L" ]
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 DUS2 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 | 27 | 27 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 27 | 0 | 0 |
Variants in DUS2
This is a list of pathogenic ClinVar variants found in the DUS2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-67987874-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
16-67987896-C-T | not specified | Uncertain significance (Jan 04, 2022) | ||
16-67987900-C-G | not specified | Uncertain significance (Jul 15, 2024) | ||
16-67987909-T-G | not specified | Uncertain significance (Oct 20, 2023) | ||
16-67990082-T-G | not specified | Uncertain significance (Nov 30, 2022) | ||
16-67990838-C-A | not specified | Uncertain significance (Oct 12, 2022) | ||
16-67990874-G-A | not specified | Uncertain significance (Nov 14, 2024) | ||
16-67990882-G-A | not specified | Uncertain significance (Jul 14, 2023) | ||
16-67990897-A-T | not specified | Uncertain significance (Apr 07, 2022) | ||
16-67990904-C-T | not specified | Uncertain significance (Jun 30, 2022) | ||
16-67990913-C-T | not specified | Uncertain significance (Sep 22, 2023) | ||
16-67990916-C-T | not specified | Uncertain significance (Dec 13, 2022) | ||
16-67990927-C-T | not specified | Uncertain significance (Nov 30, 2022) | ||
16-67990928-G-A | not specified | Uncertain significance (Jun 05, 2023) | ||
16-67990961-C-T | not specified | Uncertain significance (Aug 05, 2024) | ||
16-67990963-A-G | not specified | Uncertain significance (Aug 27, 2024) | ||
16-67991135-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
16-67991865-G-A | not specified | Uncertain significance (Jun 13, 2024) | ||
16-67991865-G-C | not specified | Uncertain significance (Jul 02, 2024) | ||
16-67991904-A-G | not specified | Uncertain significance (Dec 10, 2024) | ||
16-67992074-G-A | Likely benign (Jul 01, 2022) | |||
16-67992111-C-T | not specified | Uncertain significance (Oct 03, 2024) | ||
16-67992114-C-T | not specified | Likely benign (Dec 15, 2021) | ||
16-67992144-C-T | not specified | Uncertain significance (Dec 17, 2023) | ||
16-67992524-G-C | not specified | Uncertain significance (Aug 11, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DUS2 | protein_coding | protein_coding | ENST00000565263 | 15 | 91575 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.79e-11 | 0.922 | 125677 | 0 | 71 | 125748 | 0.000282 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.605 | 261 | 290 | 0.900 | 0.0000163 | 3180 |
Missense in Polyphen | 71 | 94.876 | 0.74834 | 967 | ||
Synonymous | 1.40 | 88 | 106 | 0.828 | 0.00000557 | 987 |
Loss of Function | 1.99 | 22 | 34.6 | 0.636 | 0.00000214 | 341 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000666 | 0.000666 |
Ashkenazi Jewish | 0.000298 | 0.000298 |
East Asian | 0.000272 | 0.000272 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000299 | 0.000299 |
Middle Eastern | 0.000272 | 0.000272 |
South Asian | 0.000458 | 0.000457 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Dihydrouridine synthase. Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Negatively regulates the activation of EIF2AK2/PKR. {ECO:0000269|PubMed:15994936, ECO:0000269|PubMed:18096616}.;
- Pathway
- tRNA modification in the nucleus and cytosol;tRNA processing;Metabolism of RNA
(Consensus)
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- loftool
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.85
Haploinsufficiency Scores
- pHI
- 0.0835
- hipred
- Y
- hipred_score
- 0.663
- ghis
- 0.552
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dus2
- Phenotype
Gene ontology
- Biological process
- tRNA dihydrouridine synthesis;negative regulation of protein kinase activity;oxidation-reduction process;negative regulation of cell death
- Cellular component
- endoplasmic reticulum;cytosol
- Molecular function
- double-stranded RNA binding;protein kinase inhibitor activity;protein binding;tRNA dihydrouridine synthase activity;flavin adenine dinucleotide binding