DHX34

DExH-box helicase 34, the group of DEAH-box helicases|DECID complex|SURF complex

Basic information

Region (hg38): 19:47349312-47383247

Previous symbols: [ "DDX34" ]

Links

ENSG00000134815 ∙ NCBI:9704 ∙ OMIM:615475 ∙ HGNC:16719 ∙ Uniprot:Q14147 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• intellectual disability, autosomal dominant 40 (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHX34 gene.

• Neurodevelopmental delay;Seizure;Intellectual disability (1 variants)
• Neurodevelopmental disorder (1 variants)
• Neurodevelopmental disorders (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX34 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				8	12	20
missense	1		102	13	11	127
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel			1		2	3
splice donor/acceptor (+/-2bp)			1			1
splice region				1	2	3
non coding				1	2	3
Total	1	0	106	22	27

Variants in DHX34

This is a list of pathogenic ClinVar variants found in the DHX34 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-47353040-C-G		not specified	Uncertain significance (Sep 28, 2022)
19-47353056-G-A		not specified	Uncertain significance (Jul 27, 2024)
19-47353064-C-T		not specified	Uncertain significance (Jan 03, 2022)
19-47353079-C-T		DHX34-related disorder	Benign (Feb 04, 2020)
19-47353136-C-T		not specified	Uncertain significance (Dec 09, 2023)
19-47353145-T-G		not specified	Uncertain significance (Sep 08, 2024)
19-47353181-C-T		not specified	Uncertain significance (May 17, 2023)
19-47353187-G-A		not specified	Uncertain significance (Oct 01, 2024)
19-47353226-C-T		not specified	Uncertain significance (Sep 16, 2021)
19-47353268-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-47353279-T-C		DHX34-related disorder	Benign (Jun 19, 2018)
19-47353286-C-T		DHX34-related disorder	Benign (Feb 20, 2018)
19-47353313-G-A		not specified	Uncertain significance (Jul 31, 2024)
19-47353328-T-TA			Uncertain significance (Feb 22, 2021)
19-47353343-C-T		not specified	Uncertain significance (Aug 02, 2023)
19-47353344-G-A		not specified	Uncertain significance (Jan 04, 2024)
19-47353367-C-T		not specified	Uncertain significance (Jul 14, 2022)
19-47353373-A-T		not specified	Uncertain significance (Jan 23, 2024)
19-47353380-G-A		DHX34-related disorder	Benign (Nov 09, 2018)
19-47353382-T-A		not specified	Uncertain significance (Jul 30, 2024)
19-47353410-C-T			Likely benign (Jul 01, 2024)
19-47353430-C-T		not specified	Uncertain significance (Jul 06, 2021)
19-47353431-G-A		not specified	Uncertain significance (Apr 07, 2022)
19-47353431-G-T		not specified	Uncertain significance (Dec 14, 2023)
19-47353434-G-A		not specified	Uncertain significance (Aug 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX34	protein_coding	protein_coding	ENST00000328771	16	33424

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.56e-13	0.998	125606	0	142	125748	0.000565

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0844	750	744	1.01	0.0000529	7315
Missense in Polyphen		304	310.17	0.98011		3033
Synonymous	-1.44	351	318	1.10	0.0000221	2407
Loss of Function	2.88	28	50.0	0.560	0.00000279	507

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00120	0.00119
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.000490	0.000489
Finnish	0.000421	0.000416
European (Non-Finnish)	0.000643	0.000598
Middle Eastern	0.000490	0.000489
South Asian	0.000687	0.000686
Other	0.000846	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable ATP-binding RNA helicase.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.822
• rvis_EVS: -1.02
• rvis_percentile_EVS: 8

Haploinsufficiency Scores

• pHI: 0.493
• hipred: N
• hipred_score: 0.414
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.932

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhx34

Zebrafish Information Network

• Gene name: dhx34
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;nuclear-transcribed mRNA catabolic process;negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
• Cellular component: membrane
• Molecular function: RNA binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity