GeneBe

DHX8

DEAH-box helicase 8, the group of Spliceosomal C complex|Spliceosomal P complex|DEAH-box helicases|SSU processome

Basic information

Region (hg38): 17:43483865-43610338

Previous symbols: [ "DDX8" ]

Links

ENSG00000067596 ∙ NCBI:1659 ∙ OMIM:600396 ∙ HGNC:2749 ∙ Uniprot:Q14562 ∙ 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 DHX8 gene.

  • not_specified (77 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004941.3. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
76
clinvar
 76
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 76 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DHX8protein_codingprotein_codingENST00000262415 2360599
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
9.15e-71.001256750721257470.000286
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense5.033387170.4710.00004188015
Missense in Polyphen52228.180.227892704
Synonymous0.4162472550.9670.00001322401
Loss of Function4.892365.80.3500.00000409708

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008580.000857
Ashkenazi Jewish0.00009920.0000992
East Asian0.0001630.000163
Finnish0.00004620.0000462
European (Non-Finnish)0.0003360.000334
Middle Eastern0.0001630.000163
South Asian0.0001310.000131
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:8608946}.;
Pathway
Spliceosome - Homo sapiens (human);mRNA Processing (Consensus)

Recessive Scores

pRec
0.0959

Intolerance Scores

loftool
0.595
rvis_EVS
-1.06
rvis_percentile_EVS
7.48

Haploinsufficiency Scores

pHI
0.325
hipred
Y
hipred_score
0.648
ghis
0.586

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.974

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dhx8
Phenotype

Zebrafish Information Network

Gene name
dhx8
Affected structure
blood cell
Phenotype tag
abnormal
Phenotype quality
absent

Gene ontology

Biological process
spliceosomal complex disassembly;mRNA splicing, via spliceosome;RNA processing;RNA splicing
Cellular component
nucleus;nucleoplasm;spliceosomal complex;nuclear body;U2-type catalytic step 2 spliceosome;catalytic step 2 spliceosome
Molecular function
RNA binding;ATP-dependent RNA helicase activity;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity;identical protein binding