DDX51

DEAD-box helicase 51, the group of DEAD-box helicases

Basic information

Region (hg38): 12:132136593-132144319

Links

ENSG00000185163 ∙ NCBI:317781 ∙ ∙ HGNC:20082 ∙ Uniprot:Q8N8A6 ∙ 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 DDX51 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX51 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				4	1	5
missense			67	6		73
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	67	10	1

Variants in DDX51

This is a list of pathogenic ClinVar variants found in the DDX51 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-132139675-C-T		not specified	Uncertain significance (Jan 17, 2023)
12-132139687-G-A		not specified	Uncertain significance (Mar 02, 2023)
12-132139705-G-A		not specified	Uncertain significance (Dec 17, 2023)
12-132139712-C-T		not specified	Uncertain significance (May 28, 2024)
12-132139718-G-A		not specified	Uncertain significance (Jun 17, 2024)
12-132139730-G-A		not specified	Uncertain significance (Jan 03, 2024)
12-132139895-G-C		not specified	Uncertain significance (Jan 24, 2023)
12-132139923-C-G		not specified	Uncertain significance (Sep 13, 2023)
12-132140110-G-A		not specified	Uncertain significance (Feb 16, 2023)
12-132140129-C-T		not specified	Uncertain significance (Jan 24, 2024)
12-132140132-C-T		not specified	Uncertain significance (Oct 13, 2023)
12-132140150-C-G		not specified	Likely benign (Oct 22, 2021)
12-132140162-C-T		not specified	Uncertain significance (Mar 17, 2023)
12-132140187-C-T			Likely benign (Jul 01, 2022)
12-132140456-A-T		not specified	Uncertain significance (Sep 07, 2022)
12-132140470-G-A			Likely benign (Jun 01, 2022)
12-132140478-C-T		not specified	Uncertain significance (Jan 30, 2024)
12-132140528-A-C		not specified	Uncertain significance (Oct 02, 2023)
12-132140633-C-T		not specified	Uncertain significance (Nov 23, 2022)
12-132140635-C-T		not specified	Uncertain significance (Jan 03, 2024)
12-132140661-C-T			Likely benign (Oct 01, 2022)
12-132140680-A-C		not specified	Uncertain significance (Jan 24, 2024)
12-132140684-G-C		not specified	Uncertain significance (Dec 15, 2023)
12-132140693-C-T		not specified	Likely benign (Sep 13, 2023)
12-132140728-T-C		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDX51	protein_coding	protein_coding	ENST00000397333	15	7742

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.61e-12	0.684	124671	0	76	124747	0.000305

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.41	417	343	1.21	0.0000216	4186
Missense in Polyphen		102	105.29	0.9688		1018
Synonymous	-5.15	235	154	1.53	0.0000106	1443
Loss of Function	1.56	22	31.4	0.700	0.00000178	334

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000797	0.000789
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000223
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000374	0.000371
Middle Eastern	0.000223	0.000223
South Asian	0.000261	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits. {ECO:0000250}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.767
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.96

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.280
• ghis: 0.553

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx51
• 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)

Zebrafish Information Network

• Gene name: ddx51
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

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