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PRIM1 (primase (DNA) subunit 1)

Identity

Alias_namesprimase
Other aliasp49
HGNC (Hugo) PRIM1
LocusID (NCBI) 5557
Atlas_Id 41844
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 56731580 and ends at 56752362 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)
BAZ2A (12q13.3) / PRIM1 (12q13.3)CS (12q13.3) / PRIM1 (12q13.3)PRIM1 (12q13.3) / NACA (12q13.3)
PRIM1 (12q13.3) / USP9X (Xp11.4)RNF41 (12q13.2) / PRIM1 (12q13.3)USP22 (17p11.2) / PRIM1 (12q13.3)
USP9X (Xp11.4) / PRIM1 (12q13.3)BAZ2A 12q13.3 / PRIM1 12q13.3CS 12q13.3 / PRIM1 12q13.3
RNF41 12q13.2 / PRIM1 12q13.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Bone tumors: an overview


External links

Nomenclature
HGNC (Hugo)PRIM1   9369
Cards
Entrez_Gene (NCBI)PRIM1  5557  primase (DNA) subunit 1
Aliasesp49
GeneCards (Weizmann)PRIM1
Ensembl hg19 (Hinxton)ENSG00000198056 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198056 [Gene_View]  chr12:56731580-56752362 [Contig_View]  PRIM1 [Vega]
ICGC DataPortalENSG00000198056
TCGA cBioPortalPRIM1
AceView (NCBI)PRIM1
Genatlas (Paris)PRIM1
WikiGenes5557
SOURCE (Princeton)PRIM1
Genetics Home Reference (NIH)PRIM1
Genomic and cartography
GoldenPath hg38 (UCSC)PRIM1  -     chr12:56731580-56752362 -  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRIM1  -     12q13.3   [Description]    (hg19-Feb_2009)
EnsemblPRIM1 - 12q13.3 [CytoView hg19]  PRIM1 - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIPRIM1 [Mapview hg19]  PRIM1 [Mapview hg38]
OMIM176635   
Gene and transcription
Genbank (Entrez)AA761682 AK223391 AK314866 BC005266 BU167590
RefSeq transcript (Entrez)NM_000946
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRIM1
Cluster EST : UnigeneHs.534339 [ NCBI ]
CGAP (NCI)Hs.534339
Alternative Splicing GalleryENSG00000198056
Gene ExpressionPRIM1 [ NCBI-GEO ]   PRIM1 [ EBI - ARRAY_EXPRESS ]   PRIM1 [ SEEK ]   PRIM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRIM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5557
GTEX Portal (Tissue expression)PRIM1
Human Protein AtlasENSG00000198056-PRIM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49642   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49642  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49642
Splice isoforms : SwissVarP49642
Catalytic activity : Enzyme2.7.7.- [ Enzyme-Expasy ]   2.7.7.-2.7.7.- [ IntEnz-EBI ]   2.7.7.- [ BRENDA ]   2.7.7.- [ KEGG ]   
PhosPhoSitePlusP49642
Domains : Interpro (EBI)DNA_primase_S    DNA_primase_ssu_euk/arc   
Domain families : Pfam (Sanger)DNA_primase_S (PF01896)   
Domain families : Pfam (NCBI)pfam01896   
Conserved Domain (NCBI)PRIM1
DMDM Disease mutations5557
Blocks (Seattle)PRIM1
PDB (SRS)4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
PDB (PDBSum)4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
PDB (IMB)4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
PDB (RSDB)4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
Structural Biology KnowledgeBase4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
SCOP (Structural Classification of Proteins)4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
CATH (Classification of proteins structures)4BPU    4BPW    4BPX    4LIK    4LIL    4MHQ    4RR2    5EXR   
SuperfamilyP49642
Human Protein Atlas [tissue]ENSG00000198056-PRIM1 [tissue]
Peptide AtlasP49642
HPRD08899
IPIIPI00027704   IPI00793754   IPI01022277   IPI01022443   IPI01021236   
Protein Interaction databases
DIP (DOE-UCLA)P49642
IntAct (EBI)P49642
FunCoupENSG00000198056
BioGRIDPRIM1
STRING (EMBL)PRIM1
ZODIACPRIM1
Ontologies - Pathways
QuickGOP49642
Ontology : AmiGOG1/S transition of mitotic cell cycle  telomere maintenance via recombination  single-stranded DNA binding  DNA primase activity  nucleoplasm  alpha DNA polymerase:primase complex  DNA replication, synthesis of RNA primer  DNA replication initiation  membrane  metal ion binding  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  telomere maintenance via recombination  single-stranded DNA binding  DNA primase activity  nucleoplasm  alpha DNA polymerase:primase complex  DNA replication, synthesis of RNA primer  DNA replication initiation  membrane  metal ion binding  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication   
NDEx NetworkPRIM1
Atlas of Cancer Signalling NetworkPRIM1
Wikipedia pathwaysPRIM1
Orthology - Evolution
OrthoDB5557
GeneTree (enSembl)ENSG00000198056
Phylogenetic Trees/Animal Genes : TreeFamPRIM1
HOVERGENP49642
HOGENOMP49642
Homologs : HomoloGenePRIM1
Homology/Alignments : Family Browser (UCSC)PRIM1
Gene fusions - Rearrangements
Fusion : MitelmanBAZ2A/PRIM1 [12q13.3/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanCS/PRIM1 [12q13.3/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanPRIM1/NACA [12q13.3/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanPRIM1/USP9X [12q13.3/Xp11.4]  [t(X;12)(p11;q13)]  
Fusion : MitelmanRNF41/PRIM1 [12q13.2/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanUSP9X/PRIM1 [Xp11.4/12q13.3]  [t(X;12)(p11;q13)]  
Fusion: TCGABAZ2A 12q13.3 PRIM1 12q13.3 BLCA BRCA LUSC
Fusion: TCGACS 12q13.3 PRIM1 12q13.3 BRCA
Fusion: TCGARNF41 12q13.2 PRIM1 12q13.3 LUAD
Fusion: Tumor Portal PRIM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRIM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRIM1
dbVarPRIM1
ClinVarPRIM1
1000_GenomesPRIM1 
Exome Variant ServerPRIM1
ExAC (Exome Aggregation Consortium)ENSG00000198056
GNOMAD BrowserENSG00000198056
Genetic variants : HAPMAP5557
Genomic Variants (DGV)PRIM1 [DGVbeta]
DECIPHERPRIM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRIM1 
Mutations
ICGC Data PortalPRIM1 
TCGA Data PortalPRIM1 
Broad Tumor PortalPRIM1
OASIS PortalPRIM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRIM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRIM1
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 PRIM1
DgiDB (Drug Gene Interaction Database)PRIM1
DoCM (Curated mutations)PRIM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRIM1 (select a term)
intoGenPRIM1
Cancer3DPRIM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176635   
Orphanet
MedgenPRIM1
Genetic Testing Registry PRIM1
NextProtP49642 [Medical]
TSGene5557
GENETestsPRIM1
Target ValidationPRIM1
Huge Navigator PRIM1 [HugePedia]
snp3D : Map Gene to Disease5557
BioCentury BCIQPRIM1
ClinGenPRIM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5557
Chemical/Pharm GKB GenePA33739
Clinical trialPRIM1
Miscellaneous
canSAR (ICR)PRIM1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRIM1
EVEXPRIM1
GoPubMedPRIM1
iHOPPRIM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:06:35 CET 2017

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