DHX38

DEAH-box helicase 38, the group of DEAH-box helicases

Basic information

Region (hg38): 16:72093613-72112912

Previous symbols: [ "DDX38" ]

Links

ENSG00000140829NCBI:9785OMIM:605584HGNC:17211Uniprot:Q92620AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • retinitis pigmentosa 84 (Strong), mode of inheritance: AR
  • retinitis pigmentosa (Supportive), mode of inheritance: AD
  • retinitis pigmentosa 84 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Retinitis pigmentosa 84ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingOphthalmologic24737827; 30208423

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHX38 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX38 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
9
clinvar
219
clinvar
13
clinvar
241
missense
2
clinvar
347
clinvar
9
clinvar
3
clinvar
361
nonsense
1
clinvar
12
clinvar
13
start loss
0
frameshift
6
clinvar
6
inframe indel
4
clinvar
4
splice donor/acceptor (+/-2bp)
4
clinvar
4
splice region
22
35
3
60
non coding
1
clinvar
91
clinvar
9
clinvar
101
Total 0 3 383 319 25

Variants in DHX38

This is a list of pathogenic ClinVar variants found in the DHX38 region.

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

Position Type Phenotype Significance ClinVar
16-72096163-G-A Likely benign (Jul 28, 2023)1134805
16-72096167-A-T Uncertain significance (Mar 23, 2021)1523400
16-72096184-G-A Likely benign (Sep 15, 2021)1674605
16-72096189-A-G Uncertain significance (May 27, 2022)2187914
16-72096191-C-G Uncertain significance (May 20, 2022)1995674
16-72096191-C-T Uncertain significance (Feb 09, 2022)1927749
16-72096196-G-A Likely benign (May 05, 2023)1578595
16-72096204-C-G Benign (Jan 31, 2024)1170732
16-72096212-G-A Retinitis pigmentosa 84 • Retinal dystrophy Uncertain significance (Jan 01, 2023)858580
16-72096219-AGGTTGGT-A Uncertain significance (Jun 24, 2022)2010244
16-72096221-G-A Uncertain significance (Aug 28, 2021)1378168
16-72096225-G-C not specified Uncertain significance (Dec 11, 2023)3082289
16-72096226-T-C Retinal dystrophy Benign (Jan 31, 2024)1167323
16-72096241-G-A not specified • DHX38-related disorder Benign (Jan 19, 2024)1169701
16-72096246-A-G Uncertain significance (Jul 30, 2022)1388268
16-72096250-T-C Likely benign (Dec 04, 2023)2023827
16-72096252-C-T Uncertain significance (Apr 24, 2023)1419805
16-72096253-G-A Likely benign (Sep 27, 2022)1077733
16-72096255-C-T Uncertain significance (Feb 24, 2022)849099
16-72096259-C-T Likely benign (Jul 19, 2022)942203
16-72096280-T-C Likely benign (Jun 13, 2023)1943646
16-72096286-T-C Likely benign (Jul 21, 2023)1620204
16-72096290-C-T Uncertain significance (Jul 15, 2022)1946411
16-72096291-G-A not specified Uncertain significance (Feb 05, 2024)3082278
16-72096292-C-A Likely benign (Jun 13, 2023)1672136

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DHX38protein_codingprotein_codingENST00000268482 2619351
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.11e-121.001256960521257480.000207
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.675787890.7320.00005178012
Missense in Polyphen166297.440.55812957
Synonymous0.1923123160.9860.00002132370
Loss of Function4.273270.80.4520.00000404755

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003000.000300
Ashkenazi Jewish0.0001990.000198
East Asian0.0003270.000326
Finnish0.00009290.0000924
European (Non-Finnish)0.0002330.000229
Middle Eastern0.0003270.000326
South Asian0.0002620.000261
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Probable ATP-binding RNA helicase involved in pre-mRNA splicing.;
Pathway
Spliceosome - Homo sapiens (human);mRNA Processing;Gene expression (Transcription);RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;mRNA Splicing - Major Pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

pRec
0.140

Intolerance Scores

loftool
0.658
rvis_EVS
-1.14
rvis_percentile_EVS
6.36

Haploinsufficiency Scores

pHI
0.102
hipred
Y
hipred_score
0.648
ghis
0.571

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.835

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dhx38
Phenotype

Gene ontology

Biological process
mRNA splicing, via spliceosome;RNA export from nucleus;mRNA export from nucleus;mRNA 3'-end processing
Cellular component
nucleus;nucleoplasm;membrane;catalytic step 2 spliceosome
Molecular function
RNA binding;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity