USP28 ubiquitin specific peptidase 28
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 108 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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112 |
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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
[No Data.]
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 | : | |
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 |
Type | ID |
---|---|
MIM | 610748 OMIM |
HGNC | HGNC:12625 HGNC |
Ensembl | ENSG00000048028 Ensembl |
AllianceGenome | HGNC:12625 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000544967.5 | hg38 | chr11 | 113,798,092 | 113,829,467 | 31,376 |
ENST00000003302.8 | hg38 | chr11 | 113,797,874 | 113,875,570 | 77,697 |
ENST00000537706.5 | hg38 | chr11 | 113,813,755 | 113,875,528 | 61,774 |
ENST00000696973.1 | hg38 | chr11 | 113,797,875 | 113,875,572 | 77,698 |
ENST00000545540.5 | hg38 | chr11 | 113,798,805 | 113,875,570 | 76,766 |
ENST00000003302.8 | hg19 | chr11 | 113,668,596 | 113,746,292 | 77,697 |
ENST00000537706.5 | hg19 | chr11 | 113,684,477 | 113,746,250 | 61,774 |
ENST00000544967.5 | hg19 | chr11 | 113,668,814 | 113,700,189 | 31,376 |
ENST00000545540.5 | hg19 | chr11 | 113,669,527 | 113,746,292 | 76,766 |
ENST00000696973.1 | hg19 | chr11 | 113,668,597 | 113,746,294 | 77,698 |
Key | Value |
---|---|
strand | - |
start | 113,668,596 |
Gene Symbol | USP28 |
Entrez GeneId | 57,646 |
Chr Band | 11q23 |
end | 113,746,291 |
chr | chr11 |
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