DDX42 DEAD-box helicase 42

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: DDX42
Type: protein-coding
Description: DEAD-box helicase 42
Entrez Gene ID: 11325
Genome: hg19
Position: chr17:61,851,223-61,896,677
Genome: hg38
Position: chr17:63,773,863-63,819,317
MIM: 613369 OMIM
HGNC: HGNC:18676 HGNC
Ensembl: ENSG00000198231 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely benign	0	6
Uncertain significance	0	76

Ranking

	ClinVar
	0
	0
	0
	82
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	DDX42P
SYNONYM	RHELP
SYNONYM	RNAHP
SYNONYM	SF3B8
SYNONYM	SF3b125
MIM	613369 OMIM
HGNC	HGNC:18676 HGNC
Ensembl	ENSG00000198231 Ensembl
AllianceGenome	HGNC:18676

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000578681.5	hg38	chr17	63,773,863	63,819,317	45,455
ENST00000583590.5	hg38	chr17	63,773,884	63,819,317	45,434
ENST00000389924.7	hg38	chr17	63,774,170	63,819,317	45,148
ENST00000359353.9	hg38	chr17	63,774,190	63,818,398	44,209
ENST00000578681.5	hg19	chr17	61,851,223	61,896,677	45,455
ENST00000389924.7	hg19	chr17	61,851,530	61,896,677	45,148
ENST00000359353.9	hg19	chr17	61,851,550	61,895,758	44,209
ENST00000583590.5	hg19	chr17	61,851,244	61,896,677	45,434

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