Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

USP30 (ubiquitin specific peptidase 30)

Identity

Alias_namesubiquitin specific protease 30
Alias_symbol (synonym)MGC10702
FLJ40511
Other alias-
HGNC (Hugo) USP30
LocusID (NCBI) 84749
Atlas_Id 55652
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109023089 and ends at 109088026 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TXNRD1 (12q23.3) / USP30 (12q24.11)USP30 (12q24.11) / USP30 (12q24.11)USP30 (12q24.11) / ZFAND5 (9q21.13)

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

 


External links

Nomenclature
HGNC (Hugo)USP30   20065
Cards
Entrez_Gene (NCBI)USP30  84749  ubiquitin specific peptidase 30
Aliases
GeneCards (Weizmann)USP30
Ensembl hg19 (Hinxton)ENSG00000135093 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135093 [Gene_View]  chr12:109023089-109088026 [Contig_View]  USP30 [Vega]
ICGC DataPortalENSG00000135093
TCGA cBioPortalUSP30
AceView (NCBI)USP30
Genatlas (Paris)USP30
WikiGenes84749
SOURCE (Princeton)USP30
Genetics Home Reference (NIH)USP30
Genomic and cartography
GoldenPath hg38 (UCSC)USP30  -     chr12:109023089-109088026 +  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USP30  -     12q24.11   [Description]    (hg19-Feb_2009)
EnsemblUSP30 - 12q24.11 [CytoView hg19]  USP30 - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIUSP30 [Mapview hg19]  USP30 [Mapview hg38]
OMIM612492   
Gene and transcription
Genbank (Entrez)AA856774 AI867665 AJ586136 AK027820 AK097830
RefSeq transcript (Entrez)NM_001301175 NM_032663
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)USP30
Cluster EST : UnigeneHs.660996 [ NCBI ]
CGAP (NCI)Hs.660996
Alternative Splicing GalleryENSG00000135093
Gene ExpressionUSP30 [ NCBI-GEO ]   USP30 [ EBI - ARRAY_EXPRESS ]   USP30 [ SEEK ]   USP30 [ MEM ]
Gene Expression Viewer (FireBrowse)USP30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84749
GTEX Portal (Tissue expression)USP30
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ70CQ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ70CQ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ70CQ3
Splice isoforms : SwissVarQ70CQ3
PhosPhoSitePlusQ70CQ3
Domaine pattern : Prosite (Expaxy)USP_1 (PS00972)    USP_2 (PS00973)    USP_3 (PS50235)   
Domains : Interpro (EBI)Peptidase_C19_UCH    USP_CS    USP_dom   
Domain families : Pfam (Sanger)UCH (PF00443)   
Domain families : Pfam (NCBI)pfam00443   
Conserved Domain (NCBI)USP30
DMDM Disease mutations84749
Blocks (Seattle)USP30
SuperfamilyQ70CQ3
Human Protein AtlasENSG00000135093
Peptide AtlasQ70CQ3
HPRD15633
IPIIPI00455146   IPI00745760   IPI01015818   IPI01015309   IPI01014823   
Protein Interaction databases
DIP (DOE-UCLA)Q70CQ3
IntAct (EBI)Q70CQ3
FunCoupENSG00000135093
BioGRIDUSP30
STRING (EMBL)USP30
ZODIACUSP30
Ontologies - Pathways
QuickGOQ70CQ3
Ontology : AmiGOmitophagy  mitophagy  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  ubiquitin-dependent protein catabolic process  mitochondrial fusion  integral component of membrane  protein deubiquitination  protein deubiquitination  protein K11-linked deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  protein K6-linked deubiquitination  
Ontology : EGO-EBImitophagy  mitophagy  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  ubiquitin-dependent protein catabolic process  mitochondrial fusion  integral component of membrane  protein deubiquitination  protein deubiquitination  protein K11-linked deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  protein K6-linked deubiquitination  
NDEx NetworkUSP30
Atlas of Cancer Signalling NetworkUSP30
Wikipedia pathwaysUSP30
Orthology - Evolution
OrthoDB84749
GeneTree (enSembl)ENSG00000135093
Phylogenetic Trees/Animal Genes : TreeFamUSP30
HOVERGENQ70CQ3
HOGENOMQ70CQ3
Homologs : HomoloGeneUSP30
Homology/Alignments : Family Browser (UCSC)USP30
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSP30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USP30
dbVarUSP30
ClinVarUSP30
1000_GenomesUSP30 
Exome Variant ServerUSP30
ExAC (Exome Aggregation Consortium)USP30 (select the gene name)
Genetic variants : HAPMAP84749
Genomic Variants (DGV)USP30 [DGVbeta]
DECIPHERUSP30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUSP30 
Mutations
ICGC Data PortalUSP30 
TCGA Data PortalUSP30 
Broad Tumor PortalUSP30
OASIS PortalUSP30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSP30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUSP30
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 USP30
DgiDB (Drug Gene Interaction Database)USP30
DoCM (Curated mutations)USP30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USP30 (select a term)
intoGenUSP30
Cancer3DUSP30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612492   
Orphanet
MedgenUSP30
Genetic Testing Registry USP30
NextProtQ70CQ3 [Medical]
TSGene84749
GENETestsUSP30
Huge Navigator USP30 [HugePedia]
snp3D : Map Gene to Disease84749
BioCentury BCIQUSP30
ClinGenUSP30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84749
Chemical/Pharm GKB GenePA134971149
Clinical trialUSP30
Miscellaneous
canSAR (ICR)USP30 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSP30
EVEXUSP30
GoPubMedUSP30
iHOPUSP30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:43:34 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.