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USP9X (ubiquitin specific peptidase 9 X-linked)

Identity

Alias_namesubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)
ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)
ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)
Alias_symbol (synonym)DFFRX
FAF
MRX99
Other aliasFAM
MRXS99F
HGNC (Hugo) USP9X
LocusID (NCBI) 8239
Atlas_Id 51119
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 41085635 and ends at 41236579 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)
ATXN2 (12q24.12) / USP9X (Xp11.4)BLCAP (20q11.23) / USP9X (Xp11.4)CDK16 (Xp11.23) / USP9X (Xp11.4)
PRIM1 (12q13.3) / USP9X (Xp11.4)USP9X (Xp11.4) / ANP32B (9q22.33)USP9X (Xp11.4) / KDM6A (Xp11.3)
USP9X (Xp11.4) / MAGEB18 (Xp21.3)USP9X (Xp11.4) / MRPS31 (13q14.11)USP9X (Xp11.4) / PRIM1 (12q13.3)
USP9X (Xp11.4) / USP9X (Xp11.4)ZNF124 (1q44) / USP9X (Xp11.4)USP9X Xp11.4 / KDM6A Xp11.3
USP9X Xp11.4 / MAGEB18 Xp21.3USP9X Xp11.4 / MRPS31 13q14.11

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) [ 6 ]
  USP9X/ERAS (Xp11)
USP9X/KDM6A (Xp11)
t(X;X)(p11;p21) USP9X/MAGEB18
t(X;12)(p11;q13) PRIM1/USP9X
t(X;12)(p11;q13) USP9X/PRIM1
t(X;13)(p11;q14) USP9X/MRPS31

External links

Nomenclature
HGNC (Hugo)USP9X   12632
Cards
Entrez_Gene (NCBI)USP9X  8239  ubiquitin specific peptidase 9 X-linked
AliasesDFFRX; FAF; FAM; MRX99; 
MRXS99F
GeneCards (Weizmann)USP9X
Ensembl hg19 (Hinxton)ENSG00000124486 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124486 [Gene_View]  ENSG00000124486 [Sequence]  chrX:41085635-41236579 [Contig_View]  USP9X [Vega]
ICGC DataPortalENSG00000124486
TCGA cBioPortalUSP9X
AceView (NCBI)USP9X
Genatlas (Paris)USP9X
WikiGenes8239
SOURCE (Princeton)USP9X
Genetics Home Reference (NIH)USP9X
Genomic and cartography
GoldenPath hg38 (UCSC)USP9X  -     chrX:41085635-41236579 +  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USP9X  -     Xp11.4   [Description]    (hg19-Feb_2009)
USP9X - Xp11.4 [CytoView hg19]  USP9X - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBIUSP9X [Mapview hg19]  USP9X [Mapview hg38]
OMIM300072   300919   300968   
Gene and transcription
Genbank (Entrez)AA261797 AB209666 AF070645 AJ012078 AK294828
RefSeq transcript (Entrez)NM_001039590 NM_001039591 NM_004652 NM_021906
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)USP9X
Cluster EST : UnigeneHs.77578 [ NCBI ]
CGAP (NCI)Hs.77578
Alternative Splicing GalleryENSG00000124486
Gene ExpressionUSP9X [ NCBI-GEO ]   USP9X [ EBI - ARRAY_EXPRESS ]   USP9X [ SEEK ]   USP9X [ MEM ]
Gene Expression Viewer (FireBrowse)USP9X [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8239
GTEX Portal (Tissue expression)USP9X
Human Protein AtlasENSG00000124486-USP9X [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ93008   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ93008  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ93008
Splice isoforms : SwissVarQ93008
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusQ93008
Domaine pattern : Prosite (Expaxy)USP_1 (PS00972)    USP_2 (PS00973)    USP_3 (PS50235)   
Domains : Interpro (EBI)ARM-type_fold    Peptidase_C19_UCH    USP_CS    USP_dom   
Domain families : Pfam (Sanger)UCH (PF00443)   
Domain families : Pfam (NCBI)pfam00443   
Conserved Domain (NCBI)USP9X
DMDM Disease mutations8239
Blocks (Seattle)USP9X
PDB (RSDB)5VBD   
PDB Europe5VBD   
PDB (PDBSum)5VBD   
PDB (IMB)5VBD   
Structural Biology KnowledgeBase5VBD   
SCOP (Structural Classification of Proteins)5VBD   
CATH (Classification of proteins structures)5VBD   
SuperfamilyQ93008
Human Protein Atlas [tissue]ENSG00000124486-USP9X [tissue]
Peptide AtlasQ93008
HPRD02091
IPIIPI00003964   IPI00221012   IPI00946017   IPI00946686   
Protein Interaction databases
DIP (DOE-UCLA)Q93008
IntAct (EBI)Q93008
FunCoupENSG00000124486
BioGRIDUSP9X
STRING (EMBL)USP9X
ZODIACUSP9X
Ontologies - Pathways
QuickGOQ93008
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  neuron migration  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  protein binding  cytoplasm  cytoplasm  cytosol  cytosol  protein targeting to peroxisome  cell cycle  chromosome segregation  transforming growth factor beta receptor signaling pathway  female gamete generation  cysteine-type peptidase activity  membrane  protein deubiquitination  protein deubiquitination  protein deubiquitination  protein deubiquitination  growth cone  BMP signaling pathway  thiol-dependent ubiquitinyl hydrolase activity  thiol-dependent ubiquitinyl hydrolase activity  regulation of circadian rhythm  cellular protein metabolic process  axon extension  protein stabilization  cell division  co-SMAD binding  protein K48-linked deubiquitination  protein deubiquitination involved in ubiquitin-dependent protein catabolic process  ubiquitinyl hydrolase activity  positive regulation of DNA demethylation  Lys48-specific deubiquitinase activity  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  neuron migration  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  protein binding  cytoplasm  cytoplasm  cytosol  cytosol  protein targeting to peroxisome  cell cycle  chromosome segregation  transforming growth factor beta receptor signaling pathway  female gamete generation  cysteine-type peptidase activity  membrane  protein deubiquitination  protein deubiquitination  protein deubiquitination  protein deubiquitination  growth cone  BMP signaling pathway  thiol-dependent ubiquitinyl hydrolase activity  thiol-dependent ubiquitinyl hydrolase activity  regulation of circadian rhythm  cellular protein metabolic process  axon extension  protein stabilization  cell division  co-SMAD binding  protein K48-linked deubiquitination  protein deubiquitination involved in ubiquitin-dependent protein catabolic process  ubiquitinyl hydrolase activity  positive regulation of DNA demethylation  Lys48-specific deubiquitinase activity  
NDEx NetworkUSP9X
Atlas of Cancer Signalling NetworkUSP9X
Wikipedia pathwaysUSP9X
Orthology - Evolution
OrthoDB8239
GeneTree (enSembl)ENSG00000124486
Phylogenetic Trees/Animal Genes : TreeFamUSP9X
HOGENOMQ93008
Homologs : HomoloGeneUSP9X
Homology/Alignments : Family Browser (UCSC)USP9X
Gene fusions - Rearrangements
Fusion : MitelmanPRIM1/USP9X [12q13.3/Xp11.4]  [t(X;12)(p11;q13)]  
Fusion : MitelmanUSP9X/KDM6A [Xp11.4/Xp11.3]  [t(X;X)(p11;p11)]  
Fusion : MitelmanUSP9X/MAGEB18 [Xp11.4/Xp21.3]  [t(X;X)(p11;p21)]  
Fusion : MitelmanUSP9X/MRPS31 [Xp11.4/13q14.11]  [t(X;13)(p11;q14)]  
Fusion : MitelmanUSP9X/PRIM1 [Xp11.4/12q13.3]  [t(X;12)(p11;q13)]  
Fusion PortalUSP9X Xp11.4 KDM6A Xp11.3 LUAD
Fusion PortalUSP9X Xp11.4 MAGEB18 Xp21.3 KIRC
Fusion PortalUSP9X Xp11.4 MRPS31 13q14.11 HNSC
Fusion : QuiverUSP9X
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSP9X [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USP9X
dbVarUSP9X
ClinVarUSP9X
1000_GenomesUSP9X 
Exome Variant ServerUSP9X
ExAC (Exome Aggregation Consortium)ENSG00000124486
GNOMAD BrowserENSG00000124486
Varsome BrowserUSP9X
Genetic variants : HAPMAP8239
Genomic Variants (DGV)USP9X [DGVbeta]
DECIPHERUSP9X [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUSP9X 
Mutations
ICGC Data PortalUSP9X 
TCGA Data PortalUSP9X 
Broad Tumor PortalUSP9X
OASIS PortalUSP9X [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSP9X  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUSP9X
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 USP9X
DgiDB (Drug Gene Interaction Database)USP9X
DoCM (Curated mutations)USP9X (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USP9X (select a term)
intoGenUSP9X
Cancer3DUSP9X(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300072    300919    300968   
Orphanet3256   
DisGeNETUSP9X
MedgenUSP9X
Genetic Testing Registry USP9X
NextProtQ93008 [Medical]
TSGene8239
GENETestsUSP9X
Target ValidationUSP9X
Huge Navigator USP9X [HugePedia]
snp3D : Map Gene to Disease8239
BioCentury BCIQUSP9X
ClinGenUSP9X
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8239
Chemical/Pharm GKB GenePA37257
Clinical trialUSP9X
Miscellaneous
canSAR (ICR)USP9X (select the gene name)
DataMed IndexUSP9X
Probes
Litterature
PubMed148 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSP9X
EVEXUSP9X
GoPubMedUSP9X
iHOPUSP9X
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 19 15:59:46 CET 2019
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