DDX24

DEAD-box helicase 24, the group of DEAD-box helicases

Basic information

Region (hg38): 14:94048287-94081202

Links

ENSG00000089737 ∙ NCBI:57062 ∙ OMIM:606181 ∙ HGNC:13266 ∙ Uniprot:Q9GZR7 ∙ 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 DDX24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX24 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			73	4		77
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	73	4	0

Variants in DDX24

This is a list of pathogenic ClinVar variants found in the DDX24 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-94051207-C-T		not specified	Uncertain significance (Dec 29, 2024)
14-94051252-T-G		not specified	Uncertain significance (Jul 22, 2024)
14-94051267-T-C		not specified	Uncertain significance (Feb 07, 2023)
14-94051277-A-G		not specified	Uncertain significance (Aug 13, 2021)
14-94051292-C-T		not specified	Uncertain significance (Jul 11, 2023)
14-94051295-T-C		not specified	Likely benign (Jul 07, 2024)
14-94051325-G-A		not specified	Uncertain significance (Jan 01, 2025)
14-94051335-C-G		not specified	Uncertain significance (Jan 03, 2024)
14-94051340-T-C		not specified	Uncertain significance (Jun 16, 2024)
14-94051366-G-A		not specified	Uncertain significance (Mar 07, 2023)
14-94051385-G-C		not specified	Uncertain significance (Jun 03, 2024)
14-94051394-G-A		not specified	Uncertain significance (Nov 06, 2023)
14-94051412-C-T		not specified	Uncertain significance (Jan 23, 2025)
14-94053108-C-T		not specified	Uncertain significance (Jun 18, 2021)
14-94055016-T-C		not specified	Uncertain significance (Dec 05, 2024)
14-94055106-G-A		not specified	Uncertain significance (May 31, 2023)
14-94055153-C-T		not specified	Uncertain significance (Mar 02, 2023)
14-94055178-G-A		not specified	Uncertain significance (Dec 21, 2023)
14-94060183-G-C		not specified	Uncertain significance (Jun 11, 2021)
14-94060246-G-A		not specified	Uncertain significance (Dec 08, 2022)
14-94060273-A-T		not specified	Uncertain significance (Mar 30, 2024)
14-94060344-T-C		not specified	Uncertain significance (Mar 23, 2023)
14-94060347-C-T		not specified	Uncertain significance (Dec 15, 2024)
14-94060429-T-G		not specified	Uncertain significance (Aug 14, 2024)
14-94060462-G-A		not specified	Uncertain significance (Jan 26, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDX24	protein_coding	protein_coding	ENST00000330836	8	30326

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.685	0.315	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0874	460	465	0.989	0.0000253	5622
Missense in Polyphen		155	182.27	0.85039		2186
Synonymous	-1.54	204	178	1.15	0.00000976	1690
Loss of Function	4.34	7	34.5	0.203	0.00000207	405

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000968	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ATP-dependent RNA helicase. {ECO:0000305}.

Recessive Scores

• pRec: 0.153

Intolerance Scores

• loftool: 0.439
• rvis_EVS: 1.34
• rvis_percentile_EVS: 94.29

Haploinsufficiency Scores

• pHI: 0.178
• hipred: Y
• hipred_score: 0.593
• ghis: 0.455

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.576

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx24
• Phenotype: embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

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