DHX57

DExH-box helicase 57, the group of DEAH-box helicases

Basic information

Region (hg38): 2:38797729-38875934

Links

ENSG00000163214NCBI:90957HGNC:20086Uniprot:Q6P158AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHX57 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX57 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
1
clinvar
1
missense
79
clinvar
11
clinvar
90
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 79 12 0

Variants in DHX57

This is a list of pathogenic ClinVar variants found in the DHX57 region.

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

Position Type Phenotype Significance ClinVar
2-38798342-G-C not specified Uncertain significance (Oct 24, 2024)3501719
2-38798346-C-G not specified Uncertain significance (Aug 26, 2024)2405189
2-38798357-G-A Likely benign (Feb 01, 2023)2650841
2-38798366-T-C not specified Uncertain significance (Oct 05, 2023)3082316
2-38798375-G-A not specified Uncertain significance (Mar 16, 2024)3271921
2-38798401-C-G not specified Uncertain significance (Mar 31, 2023)2531961
2-38798418-G-A not specified Uncertain significance (Jun 13, 2024)3271935
2-38798421-G-T not specified Uncertain significance (Jul 02, 2024)3501722
2-38802719-T-C not specified Uncertain significance (Nov 20, 2023)3082315
2-38802738-G-A not specified Uncertain significance (Nov 18, 2023)3082314
2-38802766-G-A Likely benign (Jan 01, 2023)2650842
2-38802771-C-G not specified Uncertain significance (Jan 23, 2024)3082313
2-38802858-C-T not specified Uncertain significance (Jul 19, 2023)2595881
2-38806601-G-T not specified Uncertain significance (Dec 05, 2024)3501709
2-38806693-C-A not specified Uncertain significance (Jun 17, 2022)2295847
2-38813863-T-C not specified Uncertain significance (May 24, 2024)3271930
2-38813883-C-T not specified Uncertain significance (Feb 28, 2024)3082312
2-38815585-C-G not specified Uncertain significance (Apr 19, 2023)2538659
2-38815589-G-C not specified Uncertain significance (Jun 11, 2021)2232263
2-38818891-C-T not specified Uncertain significance (Aug 15, 2023)2598040
2-38818909-T-C not specified Uncertain significance (Jan 08, 2024)3082311
2-38818917-T-A not specified Uncertain significance (Sep 13, 2023)2595369
2-38819087-C-A not specified Uncertain significance (May 28, 2024)3271931
2-38819092-G-A not specified Uncertain significance (Apr 26, 2024)3271925
2-38819111-G-C not specified Uncertain significance (Feb 16, 2023)2486395

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DHX57protein_codingprotein_codingENST00000295373 2378205
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.06e-161.0012559601521257480.000605
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.9628257511.100.00004029048
Missense in Polyphen288298.450.964993623
Synonymous-1.763132761.140.00001512685
Loss of Function3.833772.10.5130.00000420856

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001060.00106
Ashkenazi Jewish0.001490.00149
East Asian0.0004360.000435
Finnish0.00009290.0000924
European (Non-Finnish)0.0006880.000686
Middle Eastern0.0004360.000435
South Asian0.0006870.000686
Other0.0003290.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Probable ATP-binding RNA helicase.;
Pathway
miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in squamous cell - TarBase (Consensus)

Intolerance Scores

loftool
0.839
rvis_EVS
-1.14
rvis_percentile_EVS
6.4

Haploinsufficiency Scores

pHI
0.184
hipred
N
hipred_score
0.492
ghis
0.560

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.758

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dhx57
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
RNA binding;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity;metal ion binding