DDX3X DEAD-box helicase 3 X-linked
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 7 | 354 |
Likely pathogenic | 0 | 220 |
Benign | 0 | 148 |
Likely benign | 0 | 396 |
Conflicting classifications of pathogenicity | 0 | 38 |
not provided | 6 | 16 |
other | 0 | 6 |
Uncertain significance | 0 | 302 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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184 |
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1,116 |
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56 |
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
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Category | : |
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Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CAP-Rf |
SYNONYM | DBX |
SYNONYM | DDX14 |
SYNONYM | DDX3 |
SYNONYM | HLP2 |
SYNONYM | MRX102 |
SYNONYM | MRXSSB |
MIM | 300160 OMIM |
HGNC | HGNC:2745 HGNC |
Ensembl | ENSG00000215301 Ensembl |
AllianceGenome | HGNC:2745 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000646319.1 | hg38 | chrX | 41,334,175 | 41,350,209 | 16,035 |
ENST00000399959.7 | hg38 | chrX | 41,334,162 | 41,350,274 | 16,113 |
ENST00000646122.1 | hg38 | chrX | 41,334,162 | 41,349,886 | 15,725 |
ENST00000643821.1 | hg38 | chrX | 41,334,012 | 41,338,780 | 4,769 |
ENST00000441189.4 | hg38 | chrX | 41,334,162 | 41,349,860 | 15,699 |
ENST00000642322.3 | hg38 | chrX | 41,334,583 | 41,349,891 | 15,309 |
ENST00000646679.1 | hg38 | chrX | 41,341,070 | 41,350,163 | 9,094 |
ENST00000457138.7 | hg38 | chrX | 41,333,913 | 41,350,224 | 16,312 |
ENST00000644109.1 | hg38 | chrX | 41,334,162 | 41,349,886 | 15,725 |
ENST00000625837.2 | hg38 | chrX | 41,333,348 | 41,364,472 | 31,125 |
ENST00000644513.1 | hg38 | chrX | 41,334,162 | 41,349,884 | 15,723 |
ENST00000644073.1 | hg38 | chrX | 41,334,606 | 41,349,886 | 15,281 |
ENST00000644074.1 | hg38 | chrX | 41,334,162 | 41,350,265 | 16,104 |
ENST00000646627.1 | hg38 | chrX | 41,335,123 | 41,348,158 | 13,036 |
ENST00000642424.1 | hg38 | chrX | 41,340,009 | 41,350,195 | 10,187 |
ENST00000644677.1 | hg38 | chrX | 41,334,610 | 41,349,850 | 15,241 |
ENST00000629496.3 | hg38 | chrX | 41,333,348 | 41,350,287 | 16,940 |
ENST00000646107.1 | hg38 | chrX | 41,334,634 | 41,349,694 | 15,061 |
ENST00000626301.2 | hg38 | chrX | 41,333,348 | 41,364,472 | 31,125 |
ENST00000644876.2 | hg38 | chrX | 41,334,162 | 41,350,274 | 16,113 |
ENST00000629496.3 | hg19 | chrX | 41,192,601 | 41,209,540 | 16,940 |
ENST00000399959.7 | hg19 | chrX | 41,193,415 | 41,209,527 | 16,113 |
ENST00000441189.4 | hg19 | chrX | 41,193,415 | 41,209,113 | 15,699 |
ENST00000625837.2 | hg19 | chrX | 41,192,601 | 41,223,725 | 31,125 |
ENST00000626301.2 | hg19 | chrX | 41,192,601 | 41,223,725 | 31,125 |
ENST00000457138.7 | hg19 | chrX | 41,193,166 | 41,209,477 | 16,312 |
ENST00000643821.1 | hg19 | chrX | 41,193,265 | 41,198,033 | 4,769 |
ENST00000644876.2 | hg19 | chrX | 41,193,415 | 41,209,527 | 16,113 |
ENST00000646319.1 | hg19 | chrX | 41,193,428 | 41,209,462 | 16,035 |
ENST00000642322.3 | hg19 | chrX | 41,193,836 | 41,209,144 | 15,309 |
ENST00000644074.1 | hg19 | chrX | 41,193,415 | 41,209,518 | 16,104 |
ENST00000644073.1 | hg19 | chrX | 41,193,859 | 41,209,139 | 15,281 |
ENST00000642424.1 | hg19 | chrX | 41,199,262 | 41,209,448 | 10,187 |
ENST00000644513.1 | hg19 | chrX | 41,193,415 | 41,209,137 | 15,723 |
ENST00000644109.1 | hg19 | chrX | 41,193,415 | 41,209,139 | 15,725 |
ENST00000644677.1 | hg19 | chrX | 41,193,863 | 41,209,103 | 15,241 |
ENST00000646107.1 | hg19 | chrX | 41,193,887 | 41,208,947 | 15,061 |
ENST00000646122.1 | hg19 | chrX | 41,193,415 | 41,209,139 | 15,725 |
ENST00000646627.1 | hg19 | chrX | 41,194,376 | 41,207,411 | 13,036 |
ENST00000646679.1 | hg19 | chrX | 41,200,323 | 41,209,416 | 9,094 |
Key | Value |
---|---|
strand | + |
start | 41,192,560 |
Gene Symbol | DDX3X |
Entrez GeneId | 1,654 |
Chr Band | Xp11.4 |
end | 41,223,724 |
chr | chrX |
Name | DEAD-box helicase 3, X-linked |
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