Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PSPC1 (paraspeckle component 1)

Identity

Alias_symbol (synonym)PSP1
FLJ10955
Other alias
HGNC (Hugo) PSPC1
LocusID (NCBI) 55269
Atlas_Id 52703
Location 13q12.11  [Link to chromosome band 13q12]
Location_base_pair Starts at 19702501 and ends at 19783036 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)
DLEU2 (13q14.2) / PSPC1 (13q12.11)PSPC1 (13q12.11) / ARHGEF2 (1q22)PSPC1 (13q12.11) / CRYL1 (13q12.11)
PSPC1 (13q12.11) / ENKUR (10p12.1)PSPC1 (13q12.11) / LATS2 (13q12.11)PSPC1 (13q12.11) / MPHOSPH8 (13q12.11)
PSPC1 (13q12.11) / ZMYM5 (13q12.11)VPS13C (15q22.2) / PSPC1 (13q12.11)PSPC1 13q12.11 / ARHGEF2 1q22
PSPC1 13q12.11 / CRYL1 13q12.11PSPC1 13q12.11 / MPHOSPH8 13q12.11PSPC1 13q12.11 / ZMYM5 13q12.11

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(13;13)(q12;q12) ZMYM5/PSPC1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Prostate tumors: an overview
t(1;13)(q22;q12) PSPC1/ARHGEF2
t(13;13)(q12;q12) PSPC1/MPHOSPH8
t(13;13)(q12;q12) PSPC1/CRYL1
t(13;13)(q12;q12) PSPC1/ZMYM5
t(13;13)(q12;q14) DLEU2/PSPC1

External links

Nomenclature
HGNC (Hugo)PSPC1   20320
Cards
Entrez_Gene (NCBI)PSPC1  55269  paraspeckle component 1
AliasesPSP1
GeneCards (Weizmann)PSPC1
Ensembl hg19 (Hinxton)ENSG00000121390 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121390 [Gene_View]  chr13:19702501-19783036 [Contig_View]  PSPC1 [Vega]
ICGC DataPortalENSG00000121390
TCGA cBioPortalPSPC1
AceView (NCBI)PSPC1
Genatlas (Paris)PSPC1
WikiGenes55269
SOURCE (Princeton)PSPC1
Genetics Home Reference (NIH)PSPC1
Genomic and cartography
GoldenPath hg38 (UCSC)PSPC1  -     chr13:19702501-19783036 -  13q12.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSPC1  -     13q12.11   [Description]    (hg19-Feb_2009)
EnsemblPSPC1 - 13q12.11 [CytoView hg19]  PSPC1 - 13q12.11 [CytoView hg38]
Mapping of homologs : NCBIPSPC1 [Mapview hg19]  PSPC1 [Mapview hg38]
OMIM612408   
Gene and transcription
Genbank (Entrez)AF448795 AF449627 AK001817 AK090873 AK301554
RefSeq transcript (Entrez)NM_001042414 NM_001354908 NM_001354909
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSPC1
Cluster EST : UnigeneHs.213198 [ NCBI ]
CGAP (NCI)Hs.213198
Alternative Splicing GalleryENSG00000121390
Gene ExpressionPSPC1 [ NCBI-GEO ]   PSPC1 [ EBI - ARRAY_EXPRESS ]   PSPC1 [ SEEK ]   PSPC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PSPC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55269
GTEX Portal (Tissue expression)PSPC1
Human Protein AtlasENSG00000121390-PSPC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXF1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXF1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXF1
Splice isoforms : SwissVarQ8WXF1
PhosPhoSitePlusQ8WXF1
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)NOPS    Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)NOPS (PF08075)    RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam08075    pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)PSPC1
DMDM Disease mutations55269
Blocks (Seattle)PSPC1
PDB (SRS)3SDE   
PDB (PDBSum)3SDE   
PDB (IMB)3SDE   
PDB (RSDB)3SDE   
Structural Biology KnowledgeBase3SDE   
SCOP (Structural Classification of Proteins)3SDE   
CATH (Classification of proteins structures)3SDE   
SuperfamilyQ8WXF1
Human Protein Atlas [tissue]ENSG00000121390-PSPC1 [tissue]
Peptide AtlasQ8WXF1
HPRD10172
IPIIPI00103525   IPI00395775   IPI01014916   IPI01009339   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXF1
IntAct (EBI)Q8WXF1
FunCoupENSG00000121390
BioGRIDPSPC1
STRING (EMBL)PSPC1
ZODIACPSPC1
Ontologies - Pathways
QuickGOQ8WXF1
Ontology : AmiGOmRNA splicing, via spliceosome  transcription regulatory region sequence-specific DNA binding  core promoter binding  fibrillar center  activation of innate immune response  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear matrix  nuclear speck  paraspeckles  regulation of circadian rhythm  innate immune response  negative regulation of transcription, DNA-templated  rhythmic process  
Ontology : EGO-EBImRNA splicing, via spliceosome  transcription regulatory region sequence-specific DNA binding  core promoter binding  fibrillar center  activation of innate immune response  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear matrix  nuclear speck  paraspeckles  regulation of circadian rhythm  innate immune response  negative regulation of transcription, DNA-templated  rhythmic process  
NDEx NetworkPSPC1
Atlas of Cancer Signalling NetworkPSPC1
Wikipedia pathwaysPSPC1
Orthology - Evolution
OrthoDB55269
GeneTree (enSembl)ENSG00000121390
Phylogenetic Trees/Animal Genes : TreeFamPSPC1
HOVERGENQ8WXF1
HOGENOMQ8WXF1
Homologs : HomoloGenePSPC1
Homology/Alignments : Family Browser (UCSC)PSPC1
Gene fusions - Rearrangements
Fusion : MitelmanDLEU2/PSPC1 [13q14.2/13q12.11]  [t(13;13)(q12;q14)]  
Fusion : MitelmanPSPC1/ARHGEF2 [13q12.11/1q22]  [t(1;13)(q22;q12)]  
Fusion : MitelmanPSPC1/CRYL1 [13q12.11/13q12.11]  [t(13;13)(q12;q12)]  
Fusion : MitelmanPSPC1/MPHOSPH8 [13q12.11/13q12.11]  [t(13;13)(q12;q12)]  
Fusion : MitelmanPSPC1/ZMYM5 [13q12.11/13q12.11]  [t(13;13)(q12;q12)]  
Fusion: TCGA_MDACCPSPC1 13q12.11 ARHGEF2 1q22 BRCA
Fusion: TCGA_MDACCPSPC1 13q12.11 CRYL1 13q12.11 GBM
Fusion: TCGA_MDACCPSPC1 13q12.11 MPHOSPH8 13q12.11 BLCA
Fusion: TCGA_MDACCPSPC1 13q12.11 ZMYM5 13q12.11 BRCA
Fusion PortalPSPC1 13q12.11 ARHGEF2 1q22 BRCA
Fusion PortalPSPC1 13q12.11 CRYL1 13q12.11 GBM
Fusion PortalPSPC1 13q12.11 MPHOSPH8 13q12.11 BLCA
Fusion PortalPSPC1 13q12.11 ZMYM5 13q12.11 BRCA
Fusion : QuiverPSPC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSPC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSPC1
dbVarPSPC1
ClinVarPSPC1
1000_GenomesPSPC1 
Exome Variant ServerPSPC1
ExAC (Exome Aggregation Consortium)ENSG00000121390
GNOMAD BrowserENSG00000121390
Genetic variants : HAPMAP55269
Genomic Variants (DGV)PSPC1 [DGVbeta]
DECIPHERPSPC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSPC1 
Mutations
ICGC Data PortalPSPC1 
TCGA Data PortalPSPC1 
Broad Tumor PortalPSPC1
OASIS PortalPSPC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSPC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPSPC1
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 PSPC1
DgiDB (Drug Gene Interaction Database)PSPC1
DoCM (Curated mutations)PSPC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSPC1 (select a term)
intoGenPSPC1
Cancer3DPSPC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612408   
Orphanet
DisGeNETPSPC1
MedgenPSPC1
Genetic Testing Registry PSPC1
NextProtQ8WXF1 [Medical]
TSGene55269
GENETestsPSPC1
Target ValidationPSPC1
Huge Navigator PSPC1 [HugePedia]
snp3D : Map Gene to Disease55269
BioCentury BCIQPSPC1
ClinGenPSPC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55269
Chemical/Pharm GKB GenePA134968603
Clinical trialPSPC1
Miscellaneous
canSAR (ICR)PSPC1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSPC1
EVEXPSPC1
GoPubMedPSPC1
iHOPPSPC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jun 18 19:40:39 CEST 2018
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