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PRRX1 (paired related homeobox 1)

Identity

Alias_namesPMX1
paired mesoderm homeo box 1
Alias_symbol (synonym)PHOX1
Other aliasAGOTC
PRX-1
PRX1
HGNC (Hugo) PRRX1
LocusID (NCBI) 5396
Atlas_Id 224
Location 1q24.2  [Link to chromosome band 1q24]
Location_base_pair Starts at 170633313 and ends at 170708541 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FRYL (4p11) / PRRX1 (1q24.2)NUP98 (11p15.4) / PRRX1 (1q24.2)PDLIM7 (5q35.3) / PRRX1 (1q24.2)
PRRX1 (1q24.2) / NUP98 (11p15.4)PRRX1 (1q24.2) / PGRMC2 (4q28.2)PRRX1 (1q24.2) / SFXN3 (10q24.31)

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(1;11)(q23;p15) NUP98/PRRX1
t(4;11)(q21;p15) NUP98/RAP1GDS1


External links

Nomenclature
HGNC (Hugo)PRRX1   9142
Cards
Entrez_Gene (NCBI)PRRX1  5396  paired related homeobox 1
AliasesAGOTC; PHOX1; PMX1; PRX-1; 
PRX1
GeneCards (Weizmann)PRRX1
Ensembl hg19 (Hinxton)ENSG00000116132 [Gene_View]  chr1:170633313-170708541 [Contig_View]  PRRX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116132 [Gene_View]  chr1:170633313-170708541 [Contig_View]  PRRX1 [Vega]
ICGC DataPortalENSG00000116132
TCGA cBioPortalPRRX1
AceView (NCBI)PRRX1
Genatlas (Paris)PRRX1
WikiGenes5396
SOURCE (Princeton)PRRX1
Genetics Home Reference (NIH)PRRX1
Genomic and cartography
GoldenPath hg19 (UCSC)PRRX1  -     chr1:170633313-170708541 +  1q24.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRRX1  -     1q24.2   [Description]    (hg38-Dec_2013)
EnsemblPRRX1 - 1q24.2 [CytoView hg19]  PRRX1 - 1q24.2 [CytoView hg38]
Mapping of homologs : NCBIPRRX1 [Mapview hg19]  PRRX1 [Mapview hg38]
OMIM167420   202650   
Gene and transcription
Genbank (Entrez)AA452918 AA758879 AB451463 AK225968 AV750422
RefSeq transcript (Entrez)NM_006902 NM_022716
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_031856 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)PRRX1
Cluster EST : UnigeneHs.283416 [ NCBI ]
CGAP (NCI)Hs.283416
Alternative Splicing GalleryENSG00000116132
Gene ExpressionPRRX1 [ NCBI-GEO ]   PRRX1 [ EBI - ARRAY_EXPRESS ]   PRRX1 [ SEEK ]   PRRX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRRX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5396
GTEX Portal (Tissue expression)PRRX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54821   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54821  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54821
Splice isoforms : SwissVarP54821
PhosPhoSitePlusP54821
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PRRX1
DMDM Disease mutations5396
Blocks (Seattle)PRRX1
SuperfamilyP54821
Human Protein AtlasENSG00000116132
Peptide AtlasP54821
HPRD01337
IPIIPI00008822   IPI00221036   IPI01024833   IPI01024845   IPI01024955   IPI01025096   
Protein Interaction databases
DIP (DOE-UCLA)P54821
IntAct (EBI)P54821
FunCoupENSG00000116132
BioGRIDPRRX1
STRING (EMBL)PRRX1
ZODIACPRRX1
Ontologies - Pathways
QuickGOP54821
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription coactivator activity  positive regulation of mesenchymal cell proliferation  transcription coactivator activity  nucleus  nucleolus  embryonic limb morphogenesis  inner ear morphogenesis  middle ear morphogenesis  sequence-specific DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription from RNA polymerase II promoter  neuron fate determination  embryonic cranial skeleton morphogenesis  artery morphogenesis  cartilage development  palate development  regulation of neuron projection regeneration  HMG box domain binding  neuronal stem cell population maintenance  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription coactivator activity  positive regulation of mesenchymal cell proliferation  transcription coactivator activity  nucleus  nucleolus  embryonic limb morphogenesis  inner ear morphogenesis  middle ear morphogenesis  sequence-specific DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription from RNA polymerase II promoter  neuron fate determination  embryonic cranial skeleton morphogenesis  artery morphogenesis  cartilage development  palate development  regulation of neuron projection regeneration  HMG box domain binding  neuronal stem cell population maintenance  
NDEx NetworkPRRX1
Atlas of Cancer Signalling NetworkPRRX1
Wikipedia pathwaysPRRX1
Orthology - Evolution
OrthoDB5396
GeneTree (enSembl)ENSG00000116132
Phylogenetic Trees/Animal Genes : TreeFamPRRX1
HOVERGENP54821
HOGENOMP54821
Homologs : HomoloGenePRRX1
Homology/Alignments : Family Browser (UCSC)PRRX1
Gene fusions - Rearrangements
Fusion : MitelmanNUP98/PRRX1 [11p15.4/1q24.2]  [t(1;11)(q24;p15)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRRX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRRX1
dbVarPRRX1
ClinVarPRRX1
1000_GenomesPRRX1 
Exome Variant ServerPRRX1
ExAC (Exome Aggregation Consortium)PRRX1 (select the gene name)
Genetic variants : HAPMAP5396
Genomic Variants (DGV)PRRX1 [DGVbeta]
DECIPHER (Syndromes)1:170633313-170708541  ENSG00000116132
CONAN: Copy Number AnalysisPRRX1 
Mutations
ICGC Data PortalPRRX1 
TCGA Data PortalPRRX1 
Broad Tumor PortalPRRX1
OASIS PortalPRRX1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPRRX1 
Somatic Mutations in Cancer : COSMICPRRX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRRX1
intOGen PortalPRRX1
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch PRRX1
DgiDB (Drug Gene Interaction Database)PRRX1
DoCM (Curated mutations)PRRX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRRX1 (select a term)
intoGenPRRX1
Cancer3DPRRX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM167420    202650   
Orphanet1305   
MedgenPRRX1
Genetic Testing Registry PRRX1
NextProtP54821 [Medical]
TSGene5396
GENETestsPRRX1
Huge Navigator PRRX1 [HugePedia]
snp3D : Map Gene to Disease5396
BioCentury BCIQPRRX1
ClinGenPRRX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5396
Chemical/Pharm GKB GenePA33466
Clinical trialPRRX1
Miscellaneous
canSAR (ICR)PRRX1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRRX1
EVEXPRRX1
GoPubMedPRRX1
iHOPPRRX1
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 : Thu Mar 30 15:15:52 CEST 2017

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