Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PSPC1 (paraspeckle component 1)

Identity

Alias (NCBI)PSP1
HGNC (Hugo) PSPC1
HGNC Alias symbPSP1
FLJ10955
LocusID (NCBI) 55269
Atlas_Id 52703
Location 13q12.11  [Link to chromosome band 13q12]
Location_base_pair Starts at 19674752 and ends at 19782945 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

External links

Nomenclature
HGNC (Hugo)PSPC1   20320
Cards
Entrez_Gene (NCBI)PSPC1    paraspeckle component 1
AliasesPSP1
GeneCards (Weizmann)PSPC1
Ensembl hg19 (Hinxton)ENSG00000121390 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121390 [Gene_View]  ENSG00000121390 [Sequence]  chr13:19674752-19782945 [Contig_View]  PSPC1 [Vega]
ICGC DataPortalENSG00000121390
TCGA cBioPortalPSPC1
AceView (NCBI)PSPC1
Genatlas (Paris)PSPC1
SOURCE (Princeton)PSPC1
Genetics Home Reference (NIH)PSPC1
Genomic and cartography
GoldenPath hg38 (UCSC)PSPC1  -     chr13:19674752-19782945 -  13q12.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSPC1  -     13q12.11   [Description]    (hg19-Feb_2009)
GoldenPathPSPC1 - 13q12.11 [CytoView hg19]  PSPC1 - 13q12.11 [CytoView hg38]
ImmunoBaseENSG00000121390
genome Data Viewer NCBIPSPC1 [Mapview hg19]  
OMIM612408   
Gene and transcription
Genbank (Entrez)AF448795 AF449627 AK001817 AK090873 AK301554
RefSeq transcript (Entrez)NM_001042414 NM_001354908 NM_001354909 NM_001363660
Consensus coding sequences : CCDS (NCBI)PSPC1
Alternative Splicing GalleryENSG00000121390
Gene ExpressionPSPC1 [ NCBI-GEO ]   PSPC1 [ EBI - ARRAY_EXPRESS ]   PSPC1 [ SEEK ]   PSPC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PSPC1 [ Firebrowse - Broad ]
GenevisibleExpression of PSPC1 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
PhosPhoSitePlusQ8WXF1
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)NOPS    Nucleotide-bd_a/b_plait_sf    PSP1_RRM1    PSP1_RRM2    RBD_domain_sf    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
PDB (RSDB)3SDE    5IFN    5WPA   
PDB Europe3SDE    5IFN    5WPA   
PDB (PDBSum)3SDE    5IFN    5WPA   
PDB (IMB)3SDE    5IFN    5WPA   
Structural Biology KnowledgeBase3SDE    5IFN    5WPA   
SCOP (Structural Classification of Proteins)3SDE    5IFN    5WPA   
CATH (Classification of proteins structures)3SDE    5IFN    5WPA   
SuperfamilyQ8WXF1
AlphaFold pdb e-kbQ8WXF1   
Human Protein Atlas [tissue]ENSG00000121390-PSPC1 [tissue]
HPRD10172
Protein Interaction databases
DIP (DOE-UCLA)Q8WXF1
IntAct (EBI)Q8WXF1
BioGRIDPSPC1
STRING (EMBL)PSPC1
ZODIACPSPC1
Ontologies - Pathways
QuickGOQ8WXF1
Ontology : AmiGOmRNA splicing, via spliceosome  transcription cis-regulatory region binding  fibrillar center  activation of innate immune response  nucleic acid binding  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  regulation of transcription, DNA-templated  nuclear matrix  nuclear speck  regulation of circadian rhythm  innate immune response  negative regulation of transcription, DNA-templated  rhythmic process  
Ontology : EGO-EBImRNA splicing, via spliceosome  transcription cis-regulatory region binding  fibrillar center  activation of innate immune response  nucleic acid binding  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  regulation of transcription, DNA-templated  nuclear matrix  nuclear speck  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
Homologs : HomoloGenePSPC1
Homology/Alignments : Family Browser (UCSC)PSPC1
Gene fusions - Rearrangements
Fusion : MitelmanDLEU2/PSPC1 [13q14.2/13q12.11]  
Fusion : MitelmanPSPC1/ARHGEF2 [13q12.11/1q22]  
Fusion : MitelmanPSPC1/CRYL1 [13q12.11/13q12.11]  
Fusion : MitelmanPSPC1/MPHOSPH8 [13q12.11/13q12.11]  
Fusion : MitelmanPSPC1/ZMYM5 [13q12.11/13q12.11]  
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
MonarchPSPC1
1000_GenomesPSPC1 
Exome Variant ServerPSPC1
GNOMAD BrowserENSG00000121390
Varsome BrowserPSPC1
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]  
Somatic Mutations in Cancer : COSMIC3DPSPC1
Mutations and Diseases : HGMDPSPC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
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)
Cancer3DPSPC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612408   
Orphanet
DisGeNETPSPC1
MedgenPSPC1
Genetic Testing Registry PSPC1
NextProtQ8WXF1 [Medical]
GENETestsPSPC1
Target ValidationPSPC1
Huge Navigator PSPC1 [HugePedia]
ClinGenPSPC1
Clinical trials, drugs, therapy
MyCancerGenomePSPC1
Protein Interactions : CTDPSPC1
Pharm GKB GenePA134968603
PharosQ8WXF1
Clinical trialPSPC1
Miscellaneous
canSAR (ICR)PSPC1
HarmonizomePSPC1
DataMed IndexPSPC1
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPSPC1
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 : Wed Sep 15 22:32:42 CEST 2021
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