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DESI1 (desumoylating isopeptidase 1)

Identity

Alias (NCBI)D15Wsu75e
DESI2
DJ347H13.4
DeSI-1
FAM152B
POST
PPPDE2
HGNC (Hugo) DESI1
HGNC Alias symbD15Wsu75e
HGNC Previous nameFAM152B
 PPPDE2
HGNC Previous namefamily with sequence similarity 152, member B
 PPPDE peptidase domain containing 2
LocusID (NCBI) 27351
Atlas_Id 62443
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41598028 and ends at 41621057 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGAP12 (10p11.22) / DESI1 (22q13.2)DGCR2 (22q11.21) / DESI1 (22q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(10;22)(p11;q13) ARHGAP12/DESI1
t(22;22)(q11;q13) DGCR2/DESI1


External links

Nomenclature
HGNC (Hugo)DESI1   24577
Cards
Entrez_Gene (NCBI)DESI1  27351  desumoylating isopeptidase 1
AliasesD15Wsu75e; DESI2; DJ347H13.4; DeSI-1; 
FAM152B; POST; PPPDE2
GeneCards (Weizmann)DESI1
Ensembl hg19 (Hinxton)ENSG00000100418 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100418 [Gene_View]  ENSG00000100418 [Sequence]  chr22:41598028-41621057 [Contig_View]  DESI1 [Vega]
ICGC DataPortalENSG00000100418
TCGA cBioPortalDESI1
AceView (NCBI)DESI1
Genatlas (Paris)DESI1
WikiGenes27351
SOURCE (Princeton)DESI1
Genetics Home Reference (NIH)DESI1
Genomic and cartography
GoldenPath hg38 (UCSC)DESI1  -     chr22:41598028-41621057 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DESI1  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathDESI1 - 22q13.2 [CytoView hg19]  DESI1 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000100418
genome Data Viewer NCBIDESI1 [Mapview hg19]  
OMIM614637   
Gene and transcription
Genbank (Entrez)AF038183 AK090725 BC008357 BC039554 BC093956
RefSeq transcript (Entrez)NM_015704
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DESI1
Alternative Splicing GalleryENSG00000100418
Gene ExpressionDESI1 [ NCBI-GEO ]   DESI1 [ EBI - ARRAY_EXPRESS ]   DESI1 [ SEEK ]   DESI1 [ MEM ]
Gene Expression Viewer (FireBrowse)DESI1 [ Firebrowse - Broad ]
GenevisibleExpression of DESI1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27351
GTEX Portal (Tissue expression)DESI1
Human Protein AtlasENSG00000100418-DESI1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ICB0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ICB0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ICB0
Splice isoforms : SwissVarQ6ICB0
PhosPhoSitePlusQ6ICB0
Domaine pattern : Prosite (Expaxy)PPPDE (PS51858)   
Domains : Interpro (EBI)PPPDE_dom    PPPDE_sf   
Domain families : Pfam (Sanger)Peptidase_C97 (PF05903)   
Domain families : Pfam (NCBI)pfam05903   
Domain families : Smart (EMBL)DUF862 (SM01179)  
Conserved Domain (NCBI)DESI1
DMDM Disease mutations27351
Blocks (Seattle)DESI1
PDB (RSDB)3EBQ   
PDB Europe3EBQ   
PDB (PDBSum)3EBQ   
PDB (IMB)3EBQ   
Structural Biology KnowledgeBase3EBQ   
SCOP (Structural Classification of Proteins)3EBQ   
CATH (Classification of proteins structures)3EBQ   
SuperfamilyQ6ICB0
Human Protein Atlas [tissue]ENSG00000100418-DESI1 [tissue]
Peptide AtlasQ6ICB0
HPRD18590
IPIIPI00166130   
Protein Interaction databases
DIP (DOE-UCLA)Q6ICB0
IntAct (EBI)Q6ICB0
FunCoupENSG00000100418
BioGRIDDESI1
STRING (EMBL)DESI1
ZODIACDESI1
Ontologies - Pathways
QuickGOQ6ICB0
Ontology : AmiGOnucleus  cytoplasm  proteolysis  peptidase activity  identical protein binding  
Ontology : EGO-EBInucleus  cytoplasm  proteolysis  peptidase activity  identical protein binding  
NDEx NetworkDESI1
Atlas of Cancer Signalling NetworkDESI1
Wikipedia pathwaysDESI1
Orthology - Evolution
OrthoDB27351
GeneTree (enSembl)ENSG00000100418
Phylogenetic Trees/Animal Genes : TreeFamDESI1
HOGENOMQ6ICB0
Homologs : HomoloGeneDESI1
Homology/Alignments : Family Browser (UCSC)DESI1
Gene fusions - Rearrangements
Fusion : QuiverDESI1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDESI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DESI1
dbVarDESI1
ClinVarDESI1
1000_GenomesDESI1 
Exome Variant ServerDESI1
GNOMAD BrowserENSG00000100418
Varsome BrowserDESI1
Genetic variants : HAPMAP27351
Genomic Variants (DGV)DESI1 [DGVbeta]
DECIPHERDESI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDESI1 
Mutations
ICGC Data PortalDESI1 
TCGA Data PortalDESI1 
Broad Tumor PortalDESI1
OASIS PortalDESI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDESI1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDESI1
Mutations and Diseases : HGMDDESI1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DESI1
DgiDB (Drug Gene Interaction Database)DESI1
DoCM (Curated mutations)DESI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DESI1 (select a term)
intoGenDESI1
Cancer3DDESI1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614637   
Orphanet
DisGeNETDESI1
MedgenDESI1
Genetic Testing Registry DESI1
NextProtQ6ICB0 [Medical]
TSGene27351
GENETestsDESI1
Target ValidationDESI1
Huge Navigator DESI1 [HugePedia]
snp3D : Map Gene to Disease27351
BioCentury BCIQDESI1
ClinGenDESI1
Clinical trials, drugs, therapy
Protein Interactions : CTD27351
Pharm GKB GenePA164725008
Clinical trialDESI1
Miscellaneous
canSAR (ICR)DESI1 (select the gene name)
HarmonizomeDESI1
DataMed IndexDESI1
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDESI1
EVEXDESI1
GoPubMedDESI1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:53:17 CEST 2020

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