USP43 ubiquitin specific peptidase 43

Information
Symbol
USP43
Type
protein-coding
Description
ubiquitin specific peptidase 43
Entrez Gene ID
124739
Genome
hg19
Position
chr17:9,548,834-9,633,004
Genome
hg38
Position
chr17:9,645,517-9,729,687
HGNC
HGNC:20072 HGNC
Ensembl
ENSG00000154914 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 10
Uncertain significance 0 124
Ranking
ClinVar
0
0
0
140
0
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
Category :
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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
HGNC HGNC:20072 HGNC
Ensembl ENSG00000154914 Ensembl
AllianceGenome HGNC:20072
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000285199.12 hg38 chr17 9,645,517 9,729,687 84,171
ENST00000570475.5 hg38 chr17 9,645,537 9,729,037 83,501
ENST00000285199.12 hg19 chr17 9,548,834 9,633,004 84,171
ENST00000570475.5 hg19 chr17 9,548,854 9,632,354 83,501
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