DHX57
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DHX57 (HGNC:20086) HGNC Entrez Ensembl UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DExH-box helicase 57
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DDX57
%HI
46.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.74(Read more about gnomAD LOEUF score)
Cytoband
2p22.1
Genomic Coordinates
GRCh37/hg19: chr2:39024871-39103075 NCBI Ensembl UCSC
GRCh38/hg38: chr2:38797729-38875934 NCBI Ensembl UCSC
MANE Select Transcript
NM_198963.3 ENST00000457308.6 (Read more about MANE Select)
Function
Probable ATP-binding RNA helicase. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3752
ClinGen Curation ID:
CCID:006987
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/28/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 25363760
    De Rubeis S et. al., 2014 . This group conducted autism spectrum disorder (ASD) WES study, analyzing 3,871 ASD cases. In child ID 10C110254, one de novo nonsense mutation (g.39053113G>A) was found in DHX57 gene (supplemental table 2). In this specimen, there is another de novo mutation identified, but it is a synonymous variant in BAIAP2 gene.
  • PUBMED: 28263302
    C Yuen RK et. al., 2017. This group performed WGS on 5,205 samples from families with autism spectrum disorder (ASD). Both complete genomics WGS and CMA were performed on the sample 1-0826-004, and 83 de novo SNV and indels were found (supplemental table 2), including a de novo nonsense mutation (g.39090540G>A) (supplemental table 4). This variant is the only LOF variant seen in this specimen. DHX57 is not listed as one of the 18 new candidate ASD risk genes in this study.
HI Evidence Comments:
So far, there are only two independent de novo LOF mutations (both are nonsense mutations) in unrelated individuals with ASD reported in two publications. However, ExAC PLI score is 0 and both of these two variants have been seen in ExAC database. g.39053113G>A has been seen 2/121358, allele freq=0.00001648; g.39090540G>A has been seen 27/121252, allele freq=0.0002227. After group discussion, hap score is 0 based on population freq data.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)