DUS4L

dihydrouridine synthase 4 like

Basic information

Region (hg38): 7:107563484-107578523

Links

ENSG00000105865 ∙ NCBI:11062 ∙ ∙ HGNC:21517 ∙ Uniprot:O95620 ∙ 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 DUS4L gene.

• not_specified (27 variants)
• COG5-congenital_disorder_of_glycosylation (9 variants)
• not_provided (2 variants)
• Congenital_disorder_of_glycosylation (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUS4L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181581.3. 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						0
missense			27			27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUS4L	protein_coding	protein_coding	ENST00000265720	6	14978

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000318	0.812	125642	0	104	125746	0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.750	144	172	0.839	0.00000820	2094
Missense in Polyphen		54	66.926	0.80687		824
Synonymous	1.61	40	55.2	0.725	0.00000292	578
Loss of Function	1.26	9	14.1	0.638	6.58e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000668	0.000665
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000327	0.000326
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000462	0.000457
Middle Eastern	0.000327	0.000326
South Asian	0.000853	0.000850
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}.

Recessive Scores

• pRec: 0.179

Intolerance Scores

• loftool: 0.847
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.507
• hipred: N
• hipred_score: 0.292
• ghis: 0.609

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dus4l

Gene ontology

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