DHX32

DEAH-box helicase 32 (putative), the group of DEAH-box helicases

Basic information

Region (hg38): 10:125836337-125896436

Previous symbols: [ "DDX32" ]

Links

ENSG00000089876 ∙ NCBI:55760 ∙ OMIM:607960 ∙ HGNC:16717 ∙ Uniprot:Q7L7V1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• retinal disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHX32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX32 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			2	68	10	80
missense			176	4	4	184
nonsense			2			2
start loss						0
frameshift			11			11
inframe indel			4			4
splice donor/acceptor (+/-2bp)			2			2
splice region			7	7	1	15
non coding			5	43	3	51
Total	0	0	202	115	17

Variants in DHX32

This is a list of pathogenic ClinVar variants found in the DHX32 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-125836697-G-T		not specified	Uncertain significance (Jan 23, 2024)
10-125836701-A-T			Uncertain significance (Feb 21, 2023)
10-125836702-T-C			Likely benign (Jul 25, 2022)
10-125836702-TC-GA			Uncertain significance (Jan 09, 2024)
10-125836710-C-G		not specified	Uncertain significance (Jan 15, 2024)
10-125836723-C-T			Likely benign (Sep 26, 2022)
10-125836724-G-A			Uncertain significance (Mar 18, 2023)
10-125836726-C-A			Uncertain significance (Jul 03, 2023)
10-125836727-T-A			Uncertain significance (Jun 11, 2022)
10-125836728-C-G			Uncertain significance (Dec 11, 2023)
10-125836730-C-A			Uncertain significance (Oct 18, 2022)
10-125836732-C-T			Uncertain significance (Mar 04, 2023)
10-125836737-G-C		not specified	Uncertain significance (Dec 31, 2023)
10-125836742-TC-T			Uncertain significance (Apr 05, 2023)
10-125836747-A-T		not specified	Likely benign (Mar 22, 2023)
10-125836755-T-C			Uncertain significance (Oct 16, 2022)
10-125836757-GAC-G			Uncertain significance (Sep 01, 2022)
10-125836761-CAG-C			Uncertain significance (Apr 29, 2023)
10-125836762-A-G			Likely benign (Nov 17, 2023)
10-125836776-C-A		not specified	Uncertain significance (Jan 02, 2024)
10-125836776-C-G			Uncertain significance (Aug 16, 2022)
10-125836777-C-G			Likely benign (Jul 27, 2023)
10-125836778-A-G			Uncertain significance (Oct 09, 2023)
10-125836786-C-G			Uncertain significance (Aug 29, 2023)
10-125836802-C-T			Uncertain significance (Nov 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX32	protein_coding	protein_coding	ENST00000284690	11	60100

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.65e-9	0.955	125682	0	66	125748	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	331	402	0.823	0.0000205	4900
Missense in Polyphen		116	149.27	0.77711		1735
Synonymous	-0.00528	148	148	1.00	0.00000829	1376
Loss of Function	2.05	19	31.4	0.605	0.00000146	428

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000568	0.000563
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000310	0.000308
Middle Eastern	0.000220	0.000217
South Asian	0.000267	0.000261
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0935

Intolerance Scores

• loftool: 0.890
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.73

Haploinsufficiency Scores

• pHI: 0.279
• hipred: N
• hipred_score: 0.267
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.933

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhx32

Gene ontology

• Cellular component: nucleus;mitochondrion
• Molecular function: RNA binding;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity