DUS2

dihydrouridine synthase 2

Basic information

Region (hg38): 16:67987746-68079320

Previous symbols: [ "DUS2L" ]

Links

ENSG00000167264NCBI:54920OMIM:609707HGNC:26014Uniprot:Q9NX74AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DUS2 gene.

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
clinvar
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)2214186
16-67987896-C-T not specified Uncertain significance (Jan 04, 2022)2269255
16-67987900-C-G not specified Uncertain significance (Jul 15, 2024)3504832
16-67987909-T-G not specified Uncertain significance (Oct 20, 2023)3085425
16-67990082-T-G not specified Uncertain significance (Nov 30, 2022)2412519
16-67990838-C-A not specified Uncertain significance (Oct 12, 2022)2317965
16-67990874-G-A not specified Uncertain significance (Nov 14, 2024)3504838
16-67990882-G-A not specified Uncertain significance (Jul 14, 2023)2612016
16-67990897-A-T not specified Uncertain significance (Apr 07, 2022)2381424
16-67990904-C-T not specified Uncertain significance (Jun 30, 2022)2391175
16-67990913-C-T not specified Uncertain significance (Sep 22, 2023)3085435
16-67990916-C-T not specified Uncertain significance (Dec 13, 2022)2334363
16-67990927-C-T not specified Uncertain significance (Nov 30, 2022)2329907
16-67990928-G-A not specified Uncertain significance (Jun 05, 2023)2524091
16-67990961-C-T not specified Uncertain significance (Aug 05, 2024)3504829
16-67990963-A-G not specified Uncertain significance (Aug 27, 2024)3504835
16-67991135-C-T not specified Uncertain significance (Feb 16, 2023)2455995
16-67991865-G-A not specified Uncertain significance (Jun 13, 2024)3273567
16-67991865-G-C not specified Uncertain significance (Jul 02, 2024)3504834
16-67991904-A-G not specified Uncertain significance (Dec 10, 2024)3504840
16-67992074-G-A Likely benign (Jul 01, 2022)2646649
16-67992111-C-T not specified Uncertain significance (Oct 03, 2024)3504831
16-67992114-C-T not specified Likely benign (Dec 15, 2021)2267476
16-67992144-C-T not specified Uncertain significance (Dec 17, 2023)3085434
16-67992524-G-C not specified Uncertain significance (Aug 11, 2022)2360397

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DUS2protein_codingprotein_codingENST00000565263 1591575
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.79e-110.9221256770711257480.000282
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6052612900.9000.00001633180
Missense in Polyphen7194.8760.74834967
Synonymous1.40881060.8280.00000557987
Loss of Function1.992234.60.6360.00000214341

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006660.000666
Ashkenazi Jewish0.0002980.000298
East Asian0.0002720.000272
Finnish0.000.00
European (Non-Finnish)0.0002990.000299
Middle Eastern0.0002720.000272
South Asian0.0004580.000457
Other0.0001630.000163

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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