DDX53 DEAD-box helicase 53

Information
Symbol
DDX53
Type
protein-coding
Description
DEAD-box helicase 53
Entrez Gene ID
168400
Genome
hg19
Position
chrX:23,018,077-23,021,706
Genome
hg38
Position
chrX:22,999,960-23,003,589
MIM
301079 OMIM
HGNC
HGNC:20083 HGNC
Ensembl
ENSG00000184735 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 24
Likely benign 0 22
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 52
Ranking
ClinVar
0
0
14
78
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CAGE
SYNONYM CT26
MIM 301079 OMIM
HGNC HGNC:20083 HGNC
Ensembl ENSG00000184735 Ensembl
AllianceGenome HGNC:20083
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327968.7 hg38 chrX 22,999,960 23,003,589 3,630
ENST00000327968.7 hg19 chrX 23,018,077 23,021,706 3,630
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