USP53 ubiquitin specific peptidase 53

Information
Symbol
USP53
Type
protein-coding
Description
ubiquitin specific peptidase 53
Entrez Gene ID
54532
Genome
hg19
Position
chr4:120,133,868-120,216,673
Genome
hg38
Position
chr4:119,212,713-119,295,518
MIM
617431 OMIM
HGNC
HGNC:29255 HGNC
Ensembl
ENSG00000145390 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 34
Likely pathogenic 0 32
Benign 0 38
Likely benign 0 52
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 106
Ranking
ClinVar
0
0
22
226
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
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 PFIC7
MIM 617431 OMIM
HGNC HGNC:29255 HGNC
Ensembl ENSG00000145390 Ensembl
AllianceGenome HGNC:29255
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000692078.1 hg38 chr4 119,212,713 119,295,518 82,806
ENST00000450251.6 hg38 chr4 119,212,713 119,295,518 82,806
ENST00000274030.11 hg38 chr4 119,212,713 119,294,708 81,996
ENST00000274030.11 hg19 chr4 120,133,868 120,215,863 81,996
ENST00000692078.1 hg19 chr4 120,133,868 120,216,673 82,806
ENST00000450251.6 hg19 chr4 120,133,868 120,216,673 82,806
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