DDX52

DExD-box helicase 52, the group of MicroRNA protein coding host genes|SSU processome|DEAD-box helicases

Basic information

Region (hg38): 17:37609739-37643446

Links

ENSG00000278053 ∙ NCBI:11056 ∙ OMIM:612500 ∙ HGNC:20038 ∙ Uniprot:Q9Y2R4 ∙ 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 DDX52 gene.

• not_specified (68 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX52 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007010.5. 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						0
missense			68			68
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: rRNA processing;Metabolism of RNA;rRNA modification in the nucleus and cytosol;rRNA processing in the nucleus and cytosol (Consensus)

Recessive Scores

• pRec: 0.252

Intolerance Scores

• loftool: 0.960
• rvis_EVS: 0.05
• rvis_percentile_EVS: 57.48

Haploinsufficiency Scores

• pHI: 0.185
• hipred: N
• hipred_score: 0.244

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.738

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx52
• Phenotype: growth/size/body region phenotype; immune system phenotype; skeleton phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: rRNA processing
• Cellular component: nucleoplasm;nucleolus;membrane
• Molecular function: RNA binding;helicase activity;ATP binding