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UVSSA (UV stimulated scaffold protein A)

Identity

Alias_namesKIAA1530
KIAA1530
Other aliasUVSS3
HGNC (Hugo) UVSSA
LocusID (NCBI) 57654
Atlas_Id 52742
Location 4p16.3  [Link to chromosome band 4p16]
Location_base_pair Starts at 1347316 and ends at 1388049 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)
UVSSA (4p16.3) / CRIPAK (4p16.3)UVSSA (4p16.3) / MAEA (4p16.3)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;4)(p16;p16) UVSSA/MAEA

External links

Nomenclature
HGNC (Hugo)UVSSA   29304
Cards
Entrez_Gene (NCBI)UVSSA  57654  UV stimulated scaffold protein A
AliasesKIAA1530; UVSS3
GeneCards (Weizmann)UVSSA
Ensembl hg19 (Hinxton)ENSG00000163945 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163945 [Gene_View]  ENSG00000163945 [Sequence]  chr4:1347316-1388049 [Contig_View]  UVSSA [Vega]
ICGC DataPortalENSG00000163945
TCGA cBioPortalUVSSA
AceView (NCBI)UVSSA
Genatlas (Paris)UVSSA
WikiGenes57654
SOURCE (Princeton)UVSSA
Genetics Home Reference (NIH)UVSSA
Genomic and cartography
GoldenPath hg38 (UCSC)UVSSA  -     chr4:1347316-1388049 +  4p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UVSSA  -     4p16.3   [Description]    (hg19-Feb_2009)
GoldenPathUVSSA - 4p16.3 [CytoView hg19]  UVSSA - 4p16.3 [CytoView hg38]
ImmunoBaseENSG00000163945
Mapping of homologs : NCBIUVSSA [Mapview hg19]  UVSSA [Mapview hg38]
OMIM614632   614640   
Gene and transcription
Genbank (Entrez)AB040963 AK292661 AL110229 AL390128 AL512751
RefSeq transcript (Entrez)NM_001317934 NM_001317935 NM_020894
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UVSSA
Cluster EST : UnigeneHs.744620 [ NCBI ]
CGAP (NCI)Hs.744620
Alternative Splicing GalleryENSG00000163945
Gene ExpressionUVSSA [ NCBI-GEO ]   UVSSA [ EBI - ARRAY_EXPRESS ]   UVSSA [ SEEK ]   UVSSA [ MEM ]
Gene Expression Viewer (FireBrowse)UVSSA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57654
GTEX Portal (Tissue expression)UVSSA
Human Protein AtlasENSG00000163945-UVSSA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2YD98   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2YD98  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2YD98
Splice isoforms : SwissVarQ2YD98
PhosPhoSitePlusQ2YD98
Domains : Interpro (EBI)DUF2043   
Domain families : Pfam (Sanger)DUF2043 (PF09740)   
Domain families : Pfam (NCBI)pfam09740   
Conserved Domain (NCBI)UVSSA
DMDM Disease mutations57654
Blocks (Seattle)UVSSA
PDB (RSDB)5XV8   
PDB Europe5XV8   
PDB (PDBSum)5XV8   
PDB (IMB)5XV8   
Structural Biology KnowledgeBase5XV8   
SCOP (Structural Classification of Proteins)5XV8   
CATH (Classification of proteins structures)5XV8   
SuperfamilyQ2YD98
Human Protein Atlas [tissue]ENSG00000163945-UVSSA [tissue]
Peptide AtlasQ2YD98
HPRD17216
IPIIPI00001849   IPI00885147   IPI00783032   
Protein Interaction databases
DIP (DOE-UCLA)Q2YD98
IntAct (EBI)Q2YD98
FunCoupENSG00000163945
BioGRIDUVSSA
STRING (EMBL)UVSSA
ZODIACUVSSA
Ontologies - Pathways
QuickGOQ2YD98
Ontology : AmiGORNA polymerase II complex binding  RNA polymerase II complex binding  protein binding  nucleoplasm  chromosome  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  response to UV  protein ubiquitination  
Ontology : EGO-EBIRNA polymerase II complex binding  RNA polymerase II complex binding  protein binding  nucleoplasm  chromosome  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  response to UV  protein ubiquitination  
NDEx NetworkUVSSA
Atlas of Cancer Signalling NetworkUVSSA
Wikipedia pathwaysUVSSA
Orthology - Evolution
OrthoDB57654
GeneTree (enSembl)ENSG00000163945
Phylogenetic Trees/Animal Genes : TreeFamUVSSA
HOGENOMQ2YD98
Homologs : HomoloGeneUVSSA
Homology/Alignments : Family Browser (UCSC)UVSSA
Gene fusions - Rearrangements
Fusion : MitelmanUVSSA/MAEA [4p16.3/4p16.3]  
Fusion : QuiverUVSSA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUVSSA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UVSSA
dbVarUVSSA
ClinVarUVSSA
1000_GenomesUVSSA 
Exome Variant ServerUVSSA
ExAC (Exome Aggregation Consortium)ENSG00000163945
GNOMAD BrowserENSG00000163945
Varsome BrowserUVSSA
Genetic variants : HAPMAP57654
Genomic Variants (DGV)UVSSA [DGVbeta]
DECIPHERUVSSA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUVSSA 
Mutations
ICGC Data PortalUVSSA 
TCGA Data PortalUVSSA 
Broad Tumor PortalUVSSA
OASIS PortalUVSSA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUVSSA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUVSSA
Mutations and Diseases : HGMDUVSSA
BioMutasearch UVSSA
DgiDB (Drug Gene Interaction Database)UVSSA
DoCM (Curated mutations)UVSSA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UVSSA (select a term)
intoGenUVSSA
Cancer3DUVSSA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614632    614640   
Orphanet18016   
DisGeNETUVSSA
MedgenUVSSA
Genetic Testing Registry UVSSA
NextProtQ2YD98 [Medical]
TSGene57654
GENETestsUVSSA
Target ValidationUVSSA
Huge Navigator UVSSA [HugePedia]
snp3D : Map Gene to Disease57654
BioCentury BCIQUVSSA
ClinGenUVSSA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57654
Chemical/Pharm GKB GenePA162393105
Clinical trialUVSSA
Miscellaneous
canSAR (ICR)UVSSA (select the gene name)
DataMed IndexUVSSA
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUVSSA
EVEXUVSSA
GoPubMedUVSSA
iHOPUVSSA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:14:46 CET 2019
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