DUS1L

dihydrouridine synthase 1 like

Basic information

Region (hg38): 17:82057506-82065887

Links

ENSG00000169718 ∙ NCBI:64118 ∙ ∙ HGNC:30086 ∙ Uniprot:Q6P1R4 ∙ 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 DUS1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUS1L 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			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in DUS1L

This is a list of pathogenic ClinVar variants found in the DUS1L region.

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

Position	Type	Phenotype	Significance	ClinVar
17-82058141-C-T		not specified	Uncertain significance (Nov 09, 2024)
17-82058152-C-G		not specified	Uncertain significance (Mar 17, 2023)
17-82058249-C-T		not specified	Uncertain significance (Nov 02, 2021)
17-82058370-C-T		not specified	Uncertain significance (Apr 22, 2024)
17-82058374-T-G		not specified	Uncertain significance (Nov 08, 2022)
17-82058386-C-T		not specified	Uncertain significance (Aug 19, 2024)
17-82059973-G-T		not specified	Uncertain significance (Jul 26, 2023)
17-82059988-C-A		not specified	Uncertain significance (Feb 27, 2023)
17-82060059-G-A		not specified	Uncertain significance (Jan 23, 2023)
17-82060061-G-A		not specified	Uncertain significance (Sep 21, 2023)
17-82060703-C-T		not specified	Likely benign (Nov 27, 2024)
17-82060707-C-T		not specified	Uncertain significance (Feb 21, 2024)
17-82060744-C-T		not specified	Uncertain significance (Nov 21, 2023)
17-82060747-C-T		not specified	Uncertain significance (Oct 26, 2021)
17-82060770-C-T		not specified	Uncertain significance (Jan 24, 2024)
17-82060872-C-T		not specified	Uncertain significance (Jun 06, 2022)
17-82060907-CT-C		Microcephaly;Neurodevelopmental delay;Seizure	Likely pathogenic (Nov 25, 2024)
17-82060911-A-C		not specified	Uncertain significance (Nov 12, 2021)
17-82061234-G-A		not specified	Uncertain significance (Jan 03, 2022)
17-82061237-C-T		not specified	Uncertain significance (Aug 12, 2021)
17-82061262-G-T		not specified	Uncertain significance (Jul 05, 2023)
17-82061273-C-T		not specified	Uncertain significance (Aug 21, 2023)
17-82061312-G-T		not specified	Uncertain significance (Dec 03, 2021)
17-82061318-G-A		not specified	Uncertain significance (Feb 27, 2024)
17-82061621-C-T		not specified	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUS1L	protein_coding	protein_coding	ENST00000354321	13	8382

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.73e-10	0.845	125656	0	53	125709	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.855	260	302	0.862	0.0000195	3059
Missense in Polyphen		59	96.683	0.61024		918
Synonymous	-1.33	151	132	1.15	0.00000917	922
Loss of Function	1.70	19	28.9	0.658	0.00000162	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000915	0.000906
Ashkenazi Jewish	0.00	0.00
East Asian	0.000329	0.000326
Finnish	0.0000955	0.0000924
European (Non-Finnish)	0.000165	0.000158
Middle Eastern	0.000329	0.000326
South Asian	0.000173	0.000163
Other	0.000343	0.000326

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.699
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.8

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.285
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.649

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dus1l

Gene ontology

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