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
• retinitis pigmentosa (Limited), mode of inheritance: AR

ClinVar

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

• not_provided (375 variants)
• not_specified (99 variants)
• Abnormal_circulating_immunoglobulin_concentration (1 variants)
• Thyroid_tumor (1 variants)

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. These statistics are base on transcript: NM_000018180.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4	82	10	96
missense			231	6	3	240
nonsense			3			3
start loss						0
frameshift			15			15
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	257	88	13

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