Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PAX1 (paired box 1)

Identity

Alias_namespaired box gene 1
Other aliasHUP48
OFC2
HGNC (Hugo) PAX1
LocusID (NCBI) 5075
Atlas_Id 50224
Location 20p11.22  [Link to chromosome band 20p11]
Location_base_pair Starts at 21705659 and ends at 21718486 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PAX1 (20p11.22) / CDC37 (19p13.2)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;9)(p13;p12) PAX5/HIPK1


External links

Nomenclature
HGNC (Hugo)PAX1   8615
Cards
Entrez_Gene (NCBI)PAX1  5075  paired box 1
AliasesHUP48; OFC2
GeneCards (Weizmann)PAX1
Ensembl hg19 (Hinxton)ENSG00000125813 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125813 [Gene_View]  chr20:21705659-21718486 [Contig_View]  PAX1 [Vega]
ICGC DataPortalENSG00000125813
TCGA cBioPortalPAX1
AceView (NCBI)PAX1
Genatlas (Paris)PAX1
WikiGenes5075
SOURCE (Princeton)PAX1
Genetics Home Reference (NIH)PAX1
Genomic and cartography
GoldenPath hg38 (UCSC)PAX1  -     chr20:21705659-21718486 +  20p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX1  -     20p11.22   [Description]    (hg19-Feb_2009)
EnsemblPAX1 - 20p11.22 [CytoView hg19]  PAX1 - 20p11.22 [CytoView hg38]
Mapping of homologs : NCBIPAX1 [Mapview hg19]  PAX1 [Mapview hg38]
OMIM167411   615560   
Gene and transcription
Genbank (Entrez)AI167631 AK303335 BC069134 BC143791 BC143793
RefSeq transcript (Entrez)NM_001257096 NM_006192
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAX1
Cluster EST : UnigeneHs.122310 [ NCBI ]
CGAP (NCI)Hs.122310
Alternative Splicing GalleryENSG00000125813
Gene ExpressionPAX1 [ NCBI-GEO ]   PAX1 [ EBI - ARRAY_EXPRESS ]   PAX1 [ SEEK ]   PAX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5075
GTEX Portal (Tissue expression)PAX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15863   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15863  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15863
Splice isoforms : SwissVarP15863
PhosPhoSitePlusP15863
Domaine pattern : Prosite (Expaxy)PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox-like    Paired_dom    PAX1    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)PAX (PF00292)   
Domain families : Pfam (NCBI)pfam00292   
Domain families : Smart (EMBL)PAX (SM00351)  
Conserved Domain (NCBI)PAX1
DMDM Disease mutations5075
Blocks (Seattle)PAX1
SuperfamilyP15863
Human Protein AtlasENSG00000125813
Peptide AtlasP15863
HPRD01332
IPIIPI00419577   IPI00013473   IPI00963849   
Protein Interaction databases
DIP (DOE-UCLA)P15863
IntAct (EBI)P15863
FunCoupENSG00000125813
BioGRIDPAX1
STRING (EMBL)PAX1
ZODIACPAX1
Ontologies - Pathways
QuickGOP15863
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  skeletal system development  somitogenesis  nucleus  transcription from RNA polymerase II promoter  cell proliferation  CD4-positive, alpha-beta T cell differentiation  CD8-positive, alpha-beta T cell differentiation  positive regulation of transcription from RNA polymerase II promoter  thymus development  parathyroid gland development  bone morphogenesis  sclerotome development  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  skeletal system development  somitogenesis  nucleus  transcription from RNA polymerase II promoter  cell proliferation  CD4-positive, alpha-beta T cell differentiation  CD8-positive, alpha-beta T cell differentiation  positive regulation of transcription from RNA polymerase II promoter  thymus development  parathyroid gland development  bone morphogenesis  sclerotome development  
NDEx NetworkPAX1
Atlas of Cancer Signalling NetworkPAX1
Wikipedia pathwaysPAX1
Orthology - Evolution
OrthoDB5075
GeneTree (enSembl)ENSG00000125813
Phylogenetic Trees/Animal Genes : TreeFamPAX1
HOVERGENP15863
HOGENOMP15863
Homologs : HomoloGenePAX1
Homology/Alignments : Family Browser (UCSC)PAX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX1
dbVarPAX1
ClinVarPAX1
1000_GenomesPAX1 
Exome Variant ServerPAX1
ExAC (Exome Aggregation Consortium)PAX1 (select the gene name)
Genetic variants : HAPMAP5075
Genomic Variants (DGV)PAX1 [DGVbeta]
DECIPHERPAX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAX1 
Mutations
ICGC Data PortalPAX1 
TCGA Data PortalPAX1 
Broad Tumor PortalPAX1
OASIS PortalPAX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAX1
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 PAX1
DgiDB (Drug Gene Interaction Database)PAX1
DoCM (Curated mutations)PAX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAX1 (select a term)
intoGenPAX1
Cancer3DPAX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM167411    615560   
Orphanet2540   
MedgenPAX1
Genetic Testing Registry PAX1
NextProtP15863 [Medical]
TSGene5075
GENETestsPAX1
Huge Navigator PAX1 [HugePedia]
snp3D : Map Gene to Disease5075
BioCentury BCIQPAX1
ClinGenPAX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5075
Chemical/Pharm GKB GenePA32955
Clinical trialPAX1
Miscellaneous
canSAR (ICR)PAX1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAX1
EVEXPAX1
GoPubMedPAX1
iHOPPAX1
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 : Fri May 19 12:30:19 CEST 2017

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