DESI1 desumoylating isopeptidase 1

Information
Symbol
DESI1
Type
protein-coding
Description
desumoylating isopeptidase 1
Entrez Gene ID
27351
Genome
hg19
Position
chr22:41,994,032-42,017,047
Genome
hg38
Position
chr22:41,598,028-41,621,043
MIM
614637 OMIM
HGNC
HGNC:24577 HGNC
Ensembl
ENSG00000100418 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
8
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 D15Wsu75e
SYNONYM DESI2
SYNONYM DJ347H13.4
SYNONYM DeSI-1
SYNONYM FAM152B
SYNONYM POST
SYNONYM PPPDE2
MIM 614637 OMIM
HGNC HGNC:24577 HGNC
Ensembl ENSG00000100418 Ensembl
AllianceGenome HGNC:24577
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263256.7 hg38 chr22 41,598,028 41,621,043 23,016
ENST00000263256.7 hg19 chr22 41,994,032 42,017,047 23,016
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