DDX18

DEAD-box helicase 18, the group of DEAD-box helicases|SSU processome

Basic information

Region (hg38): 2:117814691-117832377

Links

ENSG00000088205 ∙ NCBI:8886 ∙ OMIM:606355 ∙ HGNC:2741 ∙ Uniprot:Q9NVP1 ∙ 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 DDX18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX18 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				2	3	5
missense			27		3	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	27	2	7

Variants in DDX18

This is a list of pathogenic ClinVar variants found in the DDX18 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-117814791-C-T		not specified	Uncertain significance (Jul 11, 2023)
2-117814806-G-A		not specified	Uncertain significance (Aug 04, 2024)
2-117814833-A-G		not specified	Uncertain significance (Jan 29, 2024)
2-117814860-A-G		not specified	Uncertain significance (Jan 31, 2022)
2-117817446-G-T		not specified	Uncertain significance (Jul 14, 2023)
2-117817471-C-T		not specified	Uncertain significance (Sep 14, 2023)
2-117817504-G-A		not specified	Uncertain significance (May 07, 2024)
2-117817642-A-G		not specified	Uncertain significance (Nov 18, 2022)
2-117817653-G-A		not specified	Uncertain significance (Oct 07, 2024)
2-117819651-A-G		not specified	Likely benign (Oct 29, 2024)
2-117819669-G-C		not specified	Uncertain significance (Jan 23, 2024)
2-117819698-T-A		not specified	Uncertain significance (Feb 06, 2024)
2-117819702-G-A			Benign (Aug 11, 2017)
2-117819744-A-T		not specified	Uncertain significance (Dec 20, 2023)
2-117819765-G-A		not specified	Uncertain significance (May 02, 2024)
2-117821182-T-G		not specified	Uncertain significance (Oct 05, 2022)
2-117821194-G-A			Benign (Apr 02, 2018)
2-117821202-G-C		not specified	Uncertain significance (Jun 29, 2022)
2-117821237-G-A		not specified	Uncertain significance (Sep 04, 2024)
2-117821244-A-G		not specified	Uncertain significance (Apr 29, 2024)
2-117821247-A-G		not specified	Uncertain significance (Dec 26, 2023)
2-117821259-A-G		not specified	Uncertain significance (Nov 21, 2024)
2-117821268-A-G		not specified	Uncertain significance (Nov 21, 2024)
2-117821738-A-G		not specified	Uncertain significance (Jun 22, 2021)
2-117821760-C-G			Benign (Aug 11, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDX18	protein_coding	protein_coding	ENST00000263239	14	17730

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.138	0.862	125725	0	20	125745	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.466	321	345	0.929	0.0000173	4387
Missense in Polyphen		72	105.36	0.68335		1275
Synonymous	-0.268	130	126	1.03	0.00000630	1263
Loss of Function	3.92	8	31.9	0.251	0.00000166	418

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000398	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable RNA-dependent helicase.
• Pathway: Validated targets of C-MYC transcriptional activation (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.588
• rvis_EVS: 1
• rvis_percentile_EVS: 90.69

Haploinsufficiency Scores

• pHI: 0.826
• hipred: Y
• hipred_score: 0.749
• ghis: 0.516

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.759

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx18

Zebrafish Information Network

• Gene name: ddx18
• Affected structure: myeloid cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: cellular response to estradiol stimulus
• Cellular component: chromosome;nucleolus;membrane
• Molecular function: RNA binding;ATP-dependent RNA helicase activity;protein binding;ATP binding