DHX29

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

Basic information

Region (hg38): 5:55256055-55307694

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.

not_specified (151 variants)
not_provided (3 variants)
Prostate_cancer (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. These statistics are base on transcript: NM_000019030.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			148 clinvar	5 clinvar		153
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	148	6	0

Loading clinvar variants...

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