DDX11 DEAD/H-box helicase 11

Information
Symbol
DDX11
Type
protein-coding
Description
DEAD/H-box helicase 11
Entrez Gene ID
1663
Genome
hg19
Position
chr12:31,226,828-31,257,725
Genome
hg38
Position
chr12:31,073,894-31,104,791
MIM
601150 OMIM
HGNC
HGNC:2736 HGNC
Ensembl
ENSG00000013573 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 0 16
Benign 0 64
Likely benign 0 102
Conflicting classifications of pathogenicity 0 2
not provided 0 4
Uncertain significance 0 190
Ranking
ClinVar
0
0
54
324
10
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 CHL1
SYNONYM CHLR1
SYNONYM KRG2
SYNONYM WABS
MIM 601150 OMIM
HGNC HGNC:2736 HGNC
Ensembl ENSG00000013573 Ensembl
AllianceGenome HGNC:2736
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000228264.10 hg38 chr12 31,073,860 31,104,791 30,932
ENST00000350437.8 hg38 chr12 31,073,898 31,104,791 30,894
ENST00000545668.5 hg38 chr12 31,073,894 31,104,791 30,898
ENST00000542838.6 hg38 chr12 31,073,860 31,104,799 30,940
ENST00000228264.10 hg19 chr12 31,226,794 31,257,725 30,932
ENST00000350437.8 hg19 chr12 31,226,832 31,257,725 30,894
ENST00000542838.6 hg19 chr12 31,226,794 31,257,733 30,940
ENST00000545668.5 hg19 chr12 31,226,828 31,257,725 30,898
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