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.

• not_specified (70 variants)
• Seizure (1 variants)
• Neurodevelopmental_delay (1 variants)
• Microcephaly (1 variants)

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. These statistics are base on transcript: NM_000022156.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			68	1		69
nonsense						0
start loss						0
frameshift		1				1
splice donor/acceptor (+/-2bp)						0
Total	0	1	68	2	0

Highest pathogenic variant AF is 0.0000027412768

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