DDX54 DEAD-box helicase 54

Information
Symbol
DDX54
Type
protein-coding
Description
DEAD-box helicase 54
Entrez Gene ID
79039
Genome
hg19
Position
chr12:113,594,979-113,623,284
Genome
hg38
Position
chr12:113,157,174-113,185,479
MIM
611665 OMIM
HGNC
HGNC:20084 HGNC
Ensembl
ENSG00000123064 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 6
Benign 0 22
Likely benign 0 16
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 166
Ranking
ClinVar
0
0
4
198
8
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DP97
MIM 611665 OMIM
HGNC HGNC:20084 HGNC
Ensembl ENSG00000123064 Ensembl
AllianceGenome HGNC:20084
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000314045.11 hg38 chr12 113,157,174 113,185,479 28,306
ENST00000306014.10 hg38 chr12 113,157,173 113,185,478 28,306
ENST00000306014.10 hg19 chr12 113,594,978 113,623,283 28,306
ENST00000314045.11 hg19 chr12 113,594,979 113,623,284 28,306
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