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.

• not_specified (70 variants)
• not_provided (2 variants)

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. These statistics are base on transcript: NM_000018665.3. 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			66	4	2	72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	4	2

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