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DESI2 (desumoylating isopeptidase 2)

Identity

Alias_namesC1orf121
FAM152A
PPPDE1
chromosome 1 open reading frame 121
family with sequence similarity 152, member A
PPPDE peptidase domain containing 1
Alias_symbol (synonym)CGI-146
FLJ21998
PNAS-4
Other aliasDESI
DESI1
DeSI-2
HGNC (Hugo) DESI2
LocusID (NCBI) 51029
Atlas_Id 51034
Location 1q44  [Link to chromosome band 1q44]
Location_base_pair Starts at 244653126 and ends at 244709032 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)
DESI2 (1q44) / C1orf101 (1q44)DESI2 (1q44) / CAPZB (1p36.13)DESI2 (1q44) / GFAP (17q21.31)
HHAT (1q32.2) / DESI2 (1q44)

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) [ 1 ]
  t(1;1)(q32;q44) HHAT/DESI2

External links

Nomenclature
HGNC (Hugo)DESI2   24264
Cards
Entrez_Gene (NCBI)DESI2  51029  desumoylating isopeptidase 2
AliasesC1orf121; CGI-146; DESI; DESI1; 
DeSI-2; FAM152A; PNAS-4; PPPDE1
GeneCards (Weizmann)DESI2
Ensembl hg19 (Hinxton)ENSG00000121644 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121644 [Gene_View]  ENSG00000121644 [Sequence]  chr1:244653126-244709032 [Contig_View]  DESI2 [Vega]
ICGC DataPortalENSG00000121644
TCGA cBioPortalDESI2
AceView (NCBI)DESI2
Genatlas (Paris)DESI2
WikiGenes51029
SOURCE (Princeton)DESI2
Genetics Home Reference (NIH)DESI2
Genomic and cartography
GoldenPath hg38 (UCSC)DESI2  -     chr1:244653126-244709032 +  1q44   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DESI2  -     1q44   [Description]    (hg19-Feb_2009)
GoldenPathDESI2 - 1q44 [CytoView hg19]  DESI2 - 1q44 [CytoView hg38]
Genome Data Viewer NCBIDESI2 [Mapview hg19]  
OMIM614638   
Gene and transcription
Genbank (Entrez)AF151904 AF229834 AK314664 AL049397 AW135153
RefSeq transcript (Entrez)NM_001297746 NM_016076
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DESI2
Alternative Splicing GalleryENSG00000121644
Gene ExpressionDESI2 [ NCBI-GEO ]   DESI2 [ EBI - ARRAY_EXPRESS ]   DESI2 [ SEEK ]   DESI2 [ MEM ]
Gene Expression Viewer (FireBrowse)DESI2 [ Firebrowse - Broad ]
GenevisibleExpression of DESI2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51029
GTEX Portal (Tissue expression)DESI2
Human Protein AtlasENSG00000121644-DESI2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSY9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSY9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSY9
Splice isoforms : SwissVarQ9BSY9
PhosPhoSitePlusQ9BSY9
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)DESI2
DMDM Disease mutations51029
SuperfamilyQ9BSY9
Human Protein Atlas [tissue]ENSG00000121644-DESI2 [tissue]
Peptide AtlasQ9BSY9
HPRD15153
IPIIPI00383684   IPI00456420   IPI00382914   IPI00478130   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSY9
IntAct (EBI)Q9BSY9
FunCoupENSG00000121644
BioGRIDDESI2
STRING (EMBL)DESI2
ZODIACDESI2
Ontologies - Pathways
QuickGOQ9BSY9
Ontology : AmiGOprotein binding  cytoplasm  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  Lys63-specific deubiquitinase activity  protein K63-linked deubiquitination  protein modification by small protein removal  protein K48-linked deubiquitination  ubiquitinyl hydrolase activity  Lys48-specific deubiquitinase activity  
Ontology : EGO-EBIprotein binding  cytoplasm  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  Lys63-specific deubiquitinase activity  protein K63-linked deubiquitination  protein modification by small protein removal  protein K48-linked deubiquitination  ubiquitinyl hydrolase activity  Lys48-specific deubiquitinase activity  
NDEx NetworkDESI2
Atlas of Cancer Signalling NetworkDESI2
Wikipedia pathwaysDESI2
Orthology - Evolution
OrthoDB51029
GeneTree (enSembl)ENSG00000121644
Phylogenetic Trees/Animal Genes : TreeFamDESI2
HOGENOMQ9BSY9
Homologs : HomoloGeneDESI2
Homology/Alignments : Family Browser (UCSC)DESI2
Gene fusions - Rearrangements
Fusion : MitelmanHHAT/DESI2 [1q32.2/1q44]  
Fusion : QuiverDESI2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDESI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DESI2
dbVarDESI2
ClinVarDESI2
1000_GenomesDESI2 
Exome Variant ServerDESI2
GNOMAD BrowserENSG00000121644
Varsome BrowserDESI2
Genetic variants : HAPMAP51029
Genomic Variants (DGV)DESI2 [DGVbeta]
DECIPHERDESI2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDESI2 
Mutations
ICGC Data PortalDESI2 
TCGA Data PortalDESI2 
Broad Tumor PortalDESI2
OASIS PortalDESI2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDESI2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDESI2
Mutations and Diseases : HGMDDESI2
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
BioMutaselect DESI2
DgiDB (Drug Gene Interaction Database)DESI2
DoCM (Curated mutations)DESI2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DESI2 (select a term)
intoGenDESI2
Cancer3DDESI2 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614638   
Orphanet
DisGeNETDESI2
MedgenDESI2
Genetic Testing Registry DESI2
NextProtQ9BSY9 [Medical]
TSGene51029
GENETestsDESI2
Open Targets GeneticsENSG00000121644  [validation]
snp3D : Map Gene to Disease51029
BioCentury BCIQDESI2
ClinGenDESI2
Clinical trials, drugs, therapy
Protein Interactions : CTD51029
Pharm GKB GenePA164724993
Clinical trialDESI2
Miscellaneous
canSAR (ICR)DESI2 (select the gene name)
HarmonizomeDESI2
DataMed IndexDESI2
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDESI2
EVEXDESI2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 19:46:09 CEST 2020
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