DHX33

DEAH-box helicase 33, the group of DEAH-box helicases

Basic information

Region (hg38): 17:5440917-5468982

Previous symbols: [ "DDX33" ]

Links

ENSG00000005100

∙ NCBI:56919 ∙ OMIM:614405 ∙ HGNC:16718 ∙ Uniprot:Q9H6R0 ∙ 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 DHX33 gene.

not_specified (103 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX33 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020162.4. 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						0
missense			100 clinvar	3 clinvar		103
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX33	protein_coding	protein_coding	ENST00000225296	12	28149

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000914	0.999	125683	0	65	125748	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.462	397	424	0.937	0.0000249	4566
Missense in Polyphen		122	160.37	0.76075		1663
Synonymous	0.244	172	176	0.977	0.0000110	1463
Loss of Function	2.98	14	32.3	0.434	0.00000178	356

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000641	0.000640
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.0000544	0.0000544
South Asian	0.000394	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Implicated in nucleolar organization, ribosome biogenesis, protein synthesis and cytoplasmic dsRNA sensing (By similarity) (PubMed:21930779, PubMed:23871209, PubMed:26100019). Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment (PubMed:21930779). In the cytoplasm, promotes elongation-competent 80S ribosome assembly at the late stage of mRNA translation initiation (PubMed:26100019). Senses cytosolic dsRNA mediating NLRP3 inflammasome formation in macrophages and type I interferon production in myeloid dendritic cells (PubMed:23871209). Required for NLRP3 activation induced by viral dsRNA and bacterial RNA (PubMed:23871209). In dendritic cells, required for induction of type I interferon production induced by cytoplasmic dsRNA via the activation of MAPK and NF- kappa-B signaling pathways (By similarity). {ECO:0000250|UniProtKB:Q80VY9, ECO:0000269|PubMed:21930779, ECO:0000269|PubMed:23871209, ECO:0000269|PubMed:26100019}.;
Pathway: NOD-like receptor signaling pathway - Homo sapiens (human) (Consensus)

Intolerance Scores

loftool: 0.784
rvis_EVS: -0.17
rvis_percentile_EVS: 40.63

Haploinsufficiency Scores

pHI: 0.122
hipred: N
hipred_score: 0.426
ghis: 0.592

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.750

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dhx33
Phenotype: immune system 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); hematopoietic system phenotype;

Zebrafish Information Network

Gene name: dhx33
Affected structure: head
Phenotype tag: abnormal
Phenotype quality: decreased size

Gene ontology

Biological process: translational initiation;positive regulation of type I interferon production;positive regulation of MAPK cascade;positive regulation of transcription by RNA polymerase I;positive regulation of NF-kappaB transcription factor activity;positive regulation of NLRP3 inflammasome complex assembly
Cellular component: nucleus;nucleoplasm;nucleolus;cytoplasm;NLRP3 inflammasome complex
Molecular function: rDNA binding;RNA binding;double-stranded RNA binding;mRNA binding;protein binding;ATP binding;activating transcription factor binding;ATP-dependent 3'-5' RNA helicase activity;ribosomal large subunit binding