USP47 ubiquitin specific peptidase 47

Information
Symbol
USP47
Type
protein-coding
Description
ubiquitin specific peptidase 47
Entrez Gene ID
55031
Genome
hg19
Position
chr11:11,863,613-11,980,870
Genome
hg38
Position
chr11:11,842,066-11,959,323
MIM
614460 OMIM
HGNC
HGNC:20076 HGNC
Ensembl
ENSG00000170242 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Uncertain significance 0 104
Ranking
ClinVar
0
0
0
112
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 :
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 TRFP
MIM 614460 OMIM
HGNC HGNC:20076 HGNC
Ensembl ENSG00000170242 Ensembl
AllianceGenome HGNC:20076
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000527733.7 hg38 chr11 11,841,972 11,961,887 119,916
ENST00000339865.9 hg38 chr11 11,841,423 11,959,323 117,901
ENST00000399455.2 hg38 chr11 11,842,066 11,959,323 117,258
ENST00000339865.9 hg19 chr11 11,862,970 11,980,870 117,901
ENST00000527733.7 hg19 chr11 11,863,519 11,983,434 119,916
ENST00000399455.2 hg19 chr11 11,863,613 11,980,870 117,258
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