Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PKNOX1 (PBX/knotted 1 homeobox 1)

Identity

Alias_symbol (synonym)PREP1
Other aliaspkonx1c
HGNC (Hugo) PKNOX1
LocusID (NCBI) 5316
Atlas_Id 46241
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42974510 and ends at 43033931 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AK097625 () / PKNOX1 (21q22.3)CIRBP-AS1 (19p13.3) / PKNOX1 (21q22.3)COLEC10 (8q24.12) / PKNOX1 (21q22.3)
HECTD1 (14q12) / PKNOX1 (21q22.3)PAPSS1 (4q25) / PKNOX1 (21q22.3)PKNOX1 (21q22.3) / GPM6B (Xp22.2)
PKNOX1 (21q22.3) / H2BFM (Xq22.2)PKNOX1 (21q22.3) / PKNOX1 (21q22.3)PKNOX1 21q22.3 / H2BFM Xq22.2

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

 


External links

Nomenclature
HGNC (Hugo)PKNOX1   9022
Cards
Entrez_Gene (NCBI)PKNOX1  5316  PBX/knotted 1 homeobox 1
AliasesPREP1; pkonx1c
GeneCards (Weizmann)PKNOX1
Ensembl hg19 (Hinxton)ENSG00000160199 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160199 [Gene_View]  chr21:42974510-43033931 [Contig_View]  PKNOX1 [Vega]
ICGC DataPortalENSG00000160199
TCGA cBioPortalPKNOX1
AceView (NCBI)PKNOX1
Genatlas (Paris)PKNOX1
WikiGenes5316
SOURCE (Princeton)PKNOX1
Genetics Home Reference (NIH)PKNOX1
Genomic and cartography
GoldenPath hg38 (UCSC)PKNOX1  -     chr21:42974510-43033931 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKNOX1  -     21q22.3   [Description]    (hg19-Feb_2009)
EnsemblPKNOX1 - 21q22.3 [CytoView hg19]  PKNOX1 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIPKNOX1 [Mapview hg19]  PKNOX1 [Mapview hg38]
OMIM602100   
Gene and transcription
Genbank (Entrez)AA133342 AA494396 AK222892 AK294794 AY142115
RefSeq transcript (Entrez)NM_001286258 NM_001320694 NM_004571
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKNOX1
Cluster EST : UnigeneHs.431043 [ NCBI ]
CGAP (NCI)Hs.431043
Alternative Splicing GalleryENSG00000160199
Gene ExpressionPKNOX1 [ NCBI-GEO ]   PKNOX1 [ EBI - ARRAY_EXPRESS ]   PKNOX1 [ SEEK ]   PKNOX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKNOX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5316
GTEX Portal (Tissue expression)PKNOX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55347   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55347  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55347
Splice isoforms : SwissVarP55347
PhosPhoSitePlusP55347
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_dom    Homeobox_KN_domain    PKNOX/Meis_N   
Domain families : Pfam (Sanger)Homeobox_KN (PF05920)    Meis_PKNOX_N (PF16493)   
Domain families : Pfam (NCBI)pfam05920    pfam16493   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PKNOX1
DMDM Disease mutations5316
Blocks (Seattle)PKNOX1
PDB (SRS)1X2N   
PDB (PDBSum)1X2N   
PDB (IMB)1X2N   
PDB (RSDB)1X2N   
Structural Biology KnowledgeBase1X2N   
SCOP (Structural Classification of Proteins)1X2N   
CATH (Classification of proteins structures)1X2N   
SuperfamilyP55347
Human Protein AtlasENSG00000160199
Peptide AtlasP55347
HPRD03653
IPIIPI00220929   IPI00217382   IPI00981973   
Protein Interaction databases
DIP (DOE-UCLA)P55347
IntAct (EBI)P55347
FunCoupENSG00000160199
BioGRIDPKNOX1
STRING (EMBL)PKNOX1
ZODIACPKNOX1
Ontologies - Pathways
QuickGOP55347
Ontology : AmiGOtranscriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  angiogenesis  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  nucleus  transcription factor complex  cytoplasm  transcription from RNA polymerase II promoter  T cell differentiation  erythrocyte differentiation  camera-type eye development  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  
Ontology : EGO-EBItranscriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  angiogenesis  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  nucleus  transcription factor complex  cytoplasm  transcription from RNA polymerase II promoter  T cell differentiation  erythrocyte differentiation  camera-type eye development  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  
NDEx NetworkPKNOX1
Atlas of Cancer Signalling NetworkPKNOX1
Wikipedia pathwaysPKNOX1
Orthology - Evolution
OrthoDB5316
GeneTree (enSembl)ENSG00000160199
Phylogenetic Trees/Animal Genes : TreeFamPKNOX1
HOVERGENP55347
HOGENOMP55347
Homologs : HomoloGenePKNOX1
Homology/Alignments : Family Browser (UCSC)PKNOX1
Gene fusions - Rearrangements
Fusion : MitelmanPKNOX1/H2BFM [21q22.3/Xq22.2]  
Fusion: TCGAPKNOX1 21q22.3 H2BFM Xq22.2 KIRC
Fusion Cancer (Beijing)AK097625 [PKNOX1]  -  21q22.3 [FUSC001669]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKNOX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKNOX1
dbVarPKNOX1
ClinVarPKNOX1
1000_GenomesPKNOX1 
Exome Variant ServerPKNOX1
ExAC (Exome Aggregation Consortium)PKNOX1 (select the gene name)
Genetic variants : HAPMAP5316
Genomic Variants (DGV)PKNOX1 [DGVbeta]
DECIPHERPKNOX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKNOX1 
Mutations
ICGC Data PortalPKNOX1 
TCGA Data PortalPKNOX1 
Broad Tumor PortalPKNOX1
OASIS PortalPKNOX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKNOX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKNOX1
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 PKNOX1
DgiDB (Drug Gene Interaction Database)PKNOX1
DoCM (Curated mutations)PKNOX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKNOX1 (select a term)
intoGenPKNOX1
Cancer3DPKNOX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602100   
Orphanet
MedgenPKNOX1
Genetic Testing Registry PKNOX1
NextProtP55347 [Medical]
TSGene5316
GENETestsPKNOX1
Target ValidationPKNOX1
Huge Navigator PKNOX1 [HugePedia]
snp3D : Map Gene to Disease5316
BioCentury BCIQPKNOX1
ClinGenPKNOX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5316
Chemical/Pharm GKB GenePA33354
Clinical trialPKNOX1
Miscellaneous
canSAR (ICR)PKNOX1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKNOX1
EVEXPKNOX1
GoPubMedPKNOX1
iHOPPKNOX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:25:01 CEST 2017

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