OTUD5 OTU deubiquitinase 5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 2 |
Likely benign | 0 | 8 |
Conflicting classifications of pathogenicity | 0 | 6 |
not provided | 7 | 0 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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86 |
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14 |
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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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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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 | : | |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | DUBA |
SYNONYM | MCAND |
MIM | 300713 OMIM |
HGNC | HGNC:25402 HGNC |
Ensembl | ENSG00000068308 Ensembl |
AllianceGenome | HGNC:25402 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000376488.8 | hg38 | chrX | 48,922,024 | 48,957,607 | 35,584 |
ENST00000156084.8 | hg38 | chrX | 48,922,211 | 48,957,631 | 35,421 |
ENST00000396743.7 | hg38 | chrX | 48,922,028 | 48,957,631 | 35,604 |
ENST00000428668.2 | hg38 | chrX | 48,922,943 | 48,958,386 | 35,444 |
ENST00000376488.8 | hg19 | chrX | 48,779,301 | 48,814,869 | 35,569 |
ENST00000396743.7 | hg19 | chrX | 48,779,305 | 48,814,893 | 35,589 |
ENST00000156084.8 | hg19 | chrX | 48,779,488 | 48,814,893 | 35,406 |
ENST00000428668.2 | hg19 | chrX | 48,780,220 | 48,815,648 | 35,429 |
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