DUS3L

dihydrouridine synthase 3 like

Basic information

Region (hg38): 19:5784832-5791225

Links

ENSG00000141994 ∙ NCBI:56931 ∙ ∙ HGNC:26920 ∙ Uniprot:Q96G46 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DUS3L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUS3L 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			40	2		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	2	0

Variants in DUS3L

This is a list of pathogenic ClinVar variants found in the DUS3L region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-5785213-G-C		not specified	Uncertain significance (Sep 10, 2024)
19-5785215-G-T		not specified	Uncertain significance (Oct 24, 2024)
19-5785231-G-A		not specified	Uncertain significance (Jul 25, 2023)
19-5785387-T-G		not specified	Uncertain significance (Jul 14, 2022)
19-5785425-G-A		not specified	Uncertain significance (Jul 13, 2022)
19-5785441-G-A		not specified	Uncertain significance (Apr 09, 2024)
19-5785453-A-G		not specified	Uncertain significance (May 31, 2023)
19-5785476-T-G		not specified	Uncertain significance (Nov 20, 2024)
19-5785485-C-T		not specified	Uncertain significance (Jan 03, 2024)
19-5785501-C-T		not specified	Uncertain significance (Dec 08, 2023)
19-5785606-C-T		not specified	Uncertain significance (Mar 04, 2024)
19-5785625-C-G		not specified	Uncertain significance (Jul 19, 2023)
19-5785639-C-T		not specified	Uncertain significance (Oct 13, 2021)
19-5785652-C-T		not specified	Uncertain significance (Jul 25, 2024)
19-5785690-T-G		not specified	Uncertain significance (Feb 17, 2023)
19-5785729-G-A		not specified	Uncertain significance (Dec 07, 2024)
19-5785733-T-C		not specified	Uncertain significance (Jun 05, 2023)
19-5785772-A-G		not specified	Uncertain significance (Mar 28, 2024)
19-5786506-C-T		not specified	Uncertain significance (Oct 19, 2021)
19-5786507-G-A		not specified	Uncertain significance (Aug 04, 2023)
19-5786757-G-A		not specified	Uncertain significance (Aug 20, 2024)
19-5786758-G-C		not specified	Uncertain significance (May 26, 2023)
19-5786773-C-T		not specified	Uncertain significance (Feb 06, 2023)
19-5786781-C-T		not specified	Uncertain significance (May 05, 2023)
19-5786803-C-T		not specified	Uncertain significance (Nov 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUS3L	protein_coding	protein_coding	ENST00000309061	13	6407

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-11	0.854	125676	0	69	125745	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.53	351	442	0.795	0.0000329	4121
Missense in Polyphen		106	147.62	0.71807		1411
Synonymous	-0.509	205	196	1.05	0.0000154	1342
Loss of Function	1.81	22	33.3	0.661	0.00000169	342

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000397	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.000276	0.000272
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000370	0.000352
Middle Eastern	0.000276	0.000272
South Asian	0.000333	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. {ECO:0000250}.

Intolerance Scores

• loftool: 0.758
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.32

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.275
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.906

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dus3l

Gene ontology

• Biological process: tRNA dihydrouridine synthesis;oxidation-reduction process
• Molecular function: RNA binding;tRNA dihydrouridine synthase activity;metal ion binding;flavin adenine dinucleotide binding