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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 28.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_020414.4	NP_065147.1	8	yes	-
ENST00000621632.5	ENSP00000481495.1	8	yes	-
ENST00000544005.5	ENSP00000440623.1	7	-	-
ENST00000544005.6	ENSP00000440623.1	7	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DDX24 gene.

• not_specified (132 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_020414.4. 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			126	9		135
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	127	9	0

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
		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

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

Gene ontology

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