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PER1 (period circadian clock 1)

Identity

Alias_namesPER
period (Drosophila) homolog 1
period homolog 1 (Drosophila)
Alias_symbol (synonym)RIGUI
Other aliashPER
HGNC (Hugo) PER1
LocusID (NCBI) 5187
Atlas_Id 42892
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 8140470 and ends at 8152435 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DNMBP (10q24.2) / PER1 (17p13.1)ETV6 (12p13.2) / PER1 (17p13.1)PER1 (17p13.1) / ETV6 (12p13.2)
PER1 (17p13.1) / GAS5 (1q25.1)PER1 (17p13.1) / IKBKB (8p11.21)PER1 (17p13.1) / NPDC1 (9q34.3)
PSMC5 (17q23.3) / PER1 (17p13.1)

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) [ 2 ]
  t(12;12)(p13;q13) ETV6/BAZ2A
t(12;17)(p13;p13) ETV6/PER1


External links

Nomenclature
HGNC (Hugo)PER1   8845
Cards
Entrez_Gene (NCBI)PER1  5187  period circadian clock 1
AliasesPER; RIGUI; hPER
GeneCards (Weizmann)PER1
Ensembl hg19 (Hinxton)ENSG00000179094 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179094 [Gene_View]  chr17:8140470-8152435 [Contig_View]  PER1 [Vega]
ICGC DataPortalENSG00000179094
TCGA cBioPortalPER1
AceView (NCBI)PER1
Genatlas (Paris)PER1
WikiGenes5187
SOURCE (Princeton)PER1
Genetics Home Reference (NIH)PER1
Genomic and cartography
GoldenPath hg38 (UCSC)PER1  -     chr17:8140470-8152435 -  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PER1  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblPER1 - 17p13.1 [CytoView hg19]  PER1 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIPER1 [Mapview hg19]  PER1 [Mapview hg38]
OMIM602260   
Gene and transcription
Genbank (Entrez)AB002107 AB088477 AF022991 AI952483 AK291061
RefSeq transcript (Entrez)NM_002616
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PER1
Cluster EST : UnigeneHs.445534 [ NCBI ]
CGAP (NCI)Hs.445534
Alternative Splicing GalleryENSG00000179094
Gene ExpressionPER1 [ NCBI-GEO ]   PER1 [ EBI - ARRAY_EXPRESS ]   PER1 [ SEEK ]   PER1 [ MEM ]
Gene Expression Viewer (FireBrowse)PER1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5187
GTEX Portal (Tissue expression)PER1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15534   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15534  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15534
Splice isoforms : SwissVarO15534
PhosPhoSitePlusO15534
Domaine pattern : Prosite (Expaxy)PAS (PS50112)   
Domains : Interpro (EBI)PAS    PAS_fold_3    Period_circadian-like_C   
Domain families : Pfam (Sanger)PAS_3 (PF08447)    Period_C (PF12114)   
Domain families : Pfam (NCBI)pfam08447    pfam12114   
Domain families : Smart (EMBL)PAS (SM00091)  
Conserved Domain (NCBI)PER1
DMDM Disease mutations5187
Blocks (Seattle)PER1
PDB (SRS)1UL6   
PDB (PDBSum)1UL6   
PDB (IMB)1UL6   
PDB (RSDB)1UL6   
Structural Biology KnowledgeBase1UL6   
SCOP (Structural Classification of Proteins)1UL6   
CATH (Classification of proteins structures)1UL6   
SuperfamilyO15534
Human Protein AtlasENSG00000179094
Peptide AtlasO15534
HPRD03774
IPIIPI00440484   IPI00910605   
Protein Interaction databases
DIP (DOE-UCLA)O15534
IntAct (EBI)O15534
FunCoupENSG00000179094
BioGRIDPER1
STRING (EMBL)PER1
ZODIACPER1
Ontologies - Pathways
QuickGOO15534
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcription factor activity, transcription factor binding  regulation of sodium ion transport  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  circadian rhythm  transcription factor binding  entrainment of circadian clock  posttranscriptional regulation of gene expression  kinase binding  chromatin DNA binding  ubiquitin protein ligase binding  circadian regulation of gene expression  regulation of hair cycle  regulation of circadian rhythm  negative regulation of I-kappaB kinase/NF-kappaB signaling  entrainment of circadian clock by photoperiod  histone H3 acetylation  histone H4 acetylation  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of JNK cascade  response to cAMP  E-box binding  histone H3 deacetylation  circadian regulation of translation  regulation of cytokine production involved in inflammatory response  regulation of p38MAPK cascade  negative regulation of glucocorticoid receptor signaling pathway  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcription factor activity, transcription factor binding  regulation of sodium ion transport  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  circadian rhythm  transcription factor binding  entrainment of circadian clock  posttranscriptional regulation of gene expression  kinase binding  chromatin DNA binding  ubiquitin protein ligase binding  circadian regulation of gene expression  regulation of hair cycle  regulation of circadian rhythm  negative regulation of I-kappaB kinase/NF-kappaB signaling  entrainment of circadian clock by photoperiod  histone H3 acetylation  histone H4 acetylation  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of JNK cascade  response to cAMP  E-box binding  histone H3 deacetylation  circadian regulation of translation  regulation of cytokine production involved in inflammatory response  regulation of p38MAPK cascade  negative regulation of glucocorticoid receptor signaling pathway  
Pathways : BIOCARTACircadian Rhythms [Genes]   
Pathways : KEGGCircadian rhythm    Circadian entrainment    Herpes simplex infection   
NDEx NetworkPER1
Atlas of Cancer Signalling NetworkPER1
Wikipedia pathwaysPER1
Orthology - Evolution
OrthoDB5187
GeneTree (enSembl)ENSG00000179094
Phylogenetic Trees/Animal Genes : TreeFamPER1
HOVERGENO15534
HOGENOMO15534
Homologs : HomoloGenePER1
Homology/Alignments : Family Browser (UCSC)PER1
Gene fusions - Rearrangements
Fusion : MitelmanETV6/PER1 [12p13.2/17p13.1]  [t(12;17)(p13;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPER1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PER1
dbVarPER1
ClinVarPER1
1000_GenomesPER1 
Exome Variant ServerPER1
ExAC (Exome Aggregation Consortium)PER1 (select the gene name)
Genetic variants : HAPMAP5187
Genomic Variants (DGV)PER1 [DGVbeta]
DECIPHERPER1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPER1 
Mutations
ICGC Data PortalPER1 
TCGA Data PortalPER1 
Broad Tumor PortalPER1
OASIS PortalPER1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPER1 
Somatic Mutations in Cancer : COSMICPER1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPER1
intOGen PortalPER1
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 PER1
DgiDB (Drug Gene Interaction Database)PER1
DoCM (Curated mutations)PER1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PER1 (select a term)
intoGenPER1
Cancer3DPER1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602260   
Orphanet
MedgenPER1
Genetic Testing Registry PER1
NextProtO15534 [Medical]
TSGene5187
GENETestsPER1
Target ValidationPER1
Huge Navigator PER1 [HugePedia]
snp3D : Map Gene to Disease5187
BioCentury BCIQPER1
ClinGenPER1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5187
Chemical/Pharm GKB GenePA33184
Clinical trialPER1
Miscellaneous
canSAR (ICR)PER1 (select the gene name)
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePER1
EVEXPER1
GoPubMedPER1
iHOPPER1
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 : Wed Jun 7 12:49:06 CEST 2017

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