DDX43

DEAD-box helicase 43, the group of DEAD-box helicases

Basic information

Region (hg38): 6:73394828-73417566

Links

ENSG00000080007 ∙ NCBI:55510 ∙ OMIM:606286 ∙ HGNC:18677 ∙ Uniprot:Q9NXZ2 ∙ 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 DDX43 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX43 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			32	3	2	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	3	2

Variants in DDX43

This is a list of pathogenic ClinVar variants found in the DDX43 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-73394922-G-A			Benign (Jun 19, 2018)
6-73395030-G-A		not specified	Uncertain significance (Jul 13, 2022)
6-73395047-G-A		not specified	Uncertain significance (Jul 27, 2024)
6-73395048-G-C		not specified	Uncertain significance (May 31, 2023)
6-73395051-G-C		not specified	Uncertain significance (May 23, 2023)
6-73395072-G-A		not specified	Uncertain significance (Jan 09, 2024)
6-73395087-T-A		not specified	Uncertain significance (May 15, 2024)
6-73395137-T-G		not specified	Uncertain significance (Jun 29, 2023)
6-73397714-T-A			Benign (Jun 19, 2018)
6-73397719-A-G		not specified	Uncertain significance (Jan 11, 2023)
6-73400354-T-G		not specified	Uncertain significance (Jan 18, 2022)
6-73401916-C-G		not specified	Uncertain significance (Dec 27, 2023)
6-73401928-C-T		not specified	Uncertain significance (Sep 10, 2024)
6-73401953-A-T		not specified	Uncertain significance (Jul 29, 2022)
6-73405683-G-C		not specified	Uncertain significance (Nov 06, 2023)
6-73405690-T-A		not specified	Likely benign (Aug 09, 2021)
6-73405806-G-T		not specified	Uncertain significance (Aug 20, 2024)
6-73406397-G-A		not specified	Uncertain significance (Mar 28, 2024)
6-73406404-T-C		not specified	Uncertain significance (May 05, 2023)
6-73406422-G-A		not specified	Uncertain significance (May 18, 2023)
6-73406463-C-A		not specified	Uncertain significance (Feb 15, 2023)
6-73407507-T-C		not specified	Uncertain significance (Oct 27, 2021)
6-73407527-C-T		not specified	Uncertain significance (Jan 26, 2023)
6-73407534-T-C		not specified	Uncertain significance (Dec 22, 2023)
6-73407535-G-A		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDX43	protein_coding	protein_coding	ENST00000370336	16	22822

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000246	1.00	125643	0	104	125747	0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	303	372	0.815	0.0000207	4249
Missense in Polyphen		74	124.42	0.59474		1537
Synonymous	-0.482	137	130	1.05	0.00000800	1206
Loss of Function	3.59	15	39.3	0.381	0.00000216	452

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000805	0.000804
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000601	0.000598
Middle Eastern	0.0000544	0.0000544
South Asian	0.000331	0.000327
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0970

Intolerance Scores

• loftool: 0.826
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.73

Haploinsufficiency Scores

• pHI: 0.250
• hipred: N
• hipred_score: 0.409
• ghis: 0.375

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.506

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx43

Gene ontology

• Molecular function: RNA binding;ATP-dependent RNA helicase activity;ATP binding