DHX57

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

Basic information

Region (hg38): 2:38797729-38875934

Links

ENSG00000163214 ∙ NCBI:90957 ∙ ∙ HGNC:20086 ∙ Uniprot:Q6P158 ∙ 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 DHX57 gene.

• not_specified (198 variants)
• DHX57-related_disorder (7 variants)
• not_provided (2 variants)

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. These statistics are base on transcript: NM_000198963.3. 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				3		3
missense			190	13		203
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	190	16	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX57	protein_coding	protein_coding	ENST00000295373	23	78205

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.06e-16	1.00	125596	0	152	125748	0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.962	825	751	1.10	0.0000402	9048
Missense in Polyphen		288	298.45	0.96499		3623
Synonymous	-1.76	313	276	1.14	0.0000151	2685
Loss of Function	3.83	37	72.1	0.513	0.00000420	856

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00106
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.000436	0.000435
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.000688	0.000686
Middle Eastern	0.000436	0.000435
South Asian	0.000687	0.000686
Other	0.000329	0.000326

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

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

Mouse Genome Informatics

• Gene name: Dhx57

Gene ontology

• Molecular function: RNA binding;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity;metal ion binding