DHX29

DExH-box helicase 29, the group of DEAH-box helicases

Basic information

Region (hg38): 5:55256054-55307694

Previous symbols: [ "DDX29" ]

Links

ENSG00000067248 ∙ NCBI:54505 ∙ OMIM:612720 ∙ HGNC:15815 ∙ Uniprot:Q7Z478 ∙ 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 DHX29 gene.

• Inborn genetic diseases (47 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX29 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			45	2		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	2	0

Variants in DHX29

This is a list of pathogenic ClinVar variants found in the DHX29 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-55256516-G-A		not specified	Uncertain significance (Dec 19, 2022)
5-55259851-C-G		not specified	Uncertain significance (Jun 21, 2022)
5-55259857-A-G		not specified	Uncertain significance (Aug 04, 2023)
5-55259890-C-T		not specified	Uncertain significance (May 27, 2022)
5-55259905-C-T		not specified	Uncertain significance (Jul 27, 2021)
5-55261403-G-A		not specified	Uncertain significance (Aug 22, 2023)
5-55261418-C-T		not specified	Uncertain significance (Aug 21, 2023)
5-55261462-A-C		not specified	Uncertain significance (Sep 12, 2023)
5-55262705-T-G		not specified	Uncertain significance (May 23, 2023)
5-55262719-C-T		not specified	Uncertain significance (Dec 27, 2023)
5-55262886-G-A		not specified	Uncertain significance (Sep 16, 2021)
5-55262887-A-G		not specified	Uncertain significance (Nov 03, 2022)
5-55262899-C-T		not specified	Uncertain significance (Dec 06, 2021)
5-55267179-G-A		not specified	Uncertain significance (Jan 05, 2022)
5-55267707-G-A		not specified	Uncertain significance (Sep 13, 2022)
5-55267707-G-T		not specified	Uncertain significance (Mar 01, 2024)
5-55267767-C-T		not specified	Uncertain significance (Mar 17, 2023)
5-55267771-C-A		not specified	Uncertain significance (Jan 30, 2024)
5-55267774-T-C		not specified	Uncertain significance (Aug 28, 2023)
5-55269459-C-T		not specified	Uncertain significance (Nov 17, 2023)
5-55269569-G-C		not specified	Uncertain significance (Nov 09, 2023)
5-55269600-T-A		not specified	Uncertain significance (Mar 22, 2023)
5-55270451-G-C		not specified	Uncertain significance (Jun 02, 2023)
5-55270596-C-T		not specified	Uncertain significance (Dec 27, 2023)
5-55270639-G-A		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX29	protein_coding	protein_coding	ENST00000251636	27	51478

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.77e-9	1.00	125676	0	72	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.93	542	684	0.792	0.0000336	8954
Missense in Polyphen		155	249.19	0.622		3167
Synonymous	0.158	234	237	0.987	0.0000111	2571
Loss of Function	4.89	28	73.2	0.383	0.00000393	935

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000344	0.000344
Ashkenazi Jewish	0.000601	0.000595
East Asian	0.000498	0.000489
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000295	0.000290
Middle Eastern	0.000498	0.000489
South Asian	0.000209	0.000196
Other	0.000841	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity. {ECO:0000255|HAMAP-Rule:MF_03068, ECO:0000269|PubMed:19109895, ECO:0000269|PubMed:23706745}.

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.811
• rvis_EVS: -0.99
• rvis_percentile_EVS: 8.6

Haploinsufficiency Scores

• pHI: 0.687
• hipred: N
• hipred_score: 0.492
• ghis: 0.630

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.960

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhx29
• 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: translational initiation;positive regulation of translational initiation
• Cellular component: eukaryotic 43S preinitiation complex
• Molecular function: RNA binding;translation initiation factor activity;ATP binding;ATP-dependent 3'-5' RNA helicase activity;ribosomal small subunit binding;cadherin binding