USP18 ubiquitin specific peptidase 18

Information
Symbol
USP18
Type
protein-coding
Description
ubiquitin specific peptidase 18
Entrez Gene ID
11274
Genome
hg19
Position
chr22:18,632,937-18,660,164
Genome
hg38
Position
chr22:18,150,170-18,177,397
MIM
607057 OMIM
HGNC
HGNC:12616 HGNC
Ensembl
ENSG00000184979 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 6
Benign 0 18
Likely benign 0 14
not provided 4 0
Uncertain significance 0 30
Ranking
ClinVar
0
0
6
60
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 :
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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 ISG43
SYNONYM PTORCH2
SYNONYM UBP43
MIM 607057 OMIM
HGNC HGNC:12616 HGNC
Ensembl ENSG00000184979 Ensembl
AllianceGenome HGNC:12616
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000699060.2 hg38 chr22 18,149,843 18,177,368 27,526
ENST00000215794.8 hg38 chr22 18,150,170 18,177,397 27,228
ENST00000699060.2 hg19 chr22 18,632,610 18,660,135 27,526
ENST00000215794.8 hg19 chr22 18,632,937 18,660,164 27,228
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