Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PAX7 (paired box 7)

Identity

Alias_namespaired box gene 7
Alias_symbol (synonym)Hup1
Other aliasHUP1
PAX7B
RMS2
HGNC (Hugo) PAX7
LocusID (NCBI) 5081
Atlas_Id 68
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 18631006 and ends at 18736138 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)
FOXO1 (13q14.11) / PAX7 (1p36.13)IER3IP1 (18q21.1) / PAX7 (1p36.13)PAX7 (1p36.13) / FOXO1 (13q14.11)
PAX7 (1p36.13) / TMEM57 (1p36.11)SP100 (2q37.1) / PAX7 (1p36.13)UBR4 (1p36.13) / PAX7 (1p36.13)
PAX7 FOXO1UBR4 1p36.13 / PAX7 1p36.13

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;13)(p36;q14) PAX7/FOXO1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Soft Tissues: Alveolar rhabdomyosarcoma
Soft Tissues: Rhabdomyosarcoma
Soft tissue tumors: an overview
Soft Tissues: Rhabdomyosarcomas with t(11;22)(q24;q12) EWSR1/FLI1
Soft Tissues: Alveolar rhabdomyosarcoma with t(1;13)(p36;q14) PAX7/FOXO1
UBR4/PAX7 (1p36)

External links

Nomenclature
HGNC (Hugo)PAX7   8621
Cards
Entrez_Gene (NCBI)PAX7  5081  paired box 7
AliasesHUP1; PAX7B; RMS2
GeneCards (Weizmann)PAX7
Ensembl hg19 (Hinxton)ENSG00000009709 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000009709 [Gene_View]  ENSG00000009709 [Sequence]  chr1:18631006-18736138 [Contig_View]  PAX7 [Vega]
ICGC DataPortalENSG00000009709
TCGA cBioPortalPAX7
AceView (NCBI)PAX7
Genatlas (Paris)PAX7
WikiGenes5081
SOURCE (Princeton)PAX7
Genetics Home Reference (NIH)PAX7
Genomic and cartography
GoldenPath hg38 (UCSC)PAX7  -     chr1:18631006-18736138 +  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX7  -     1p36.13   [Description]    (hg19-Feb_2009)
EnsemblPAX7 - 1p36.13 [CytoView hg19]  PAX7 - 1p36.13 [CytoView hg38]
Mapping of homologs : NCBIPAX7 [Mapview hg19]  PAX7 [Mapview hg38]
OMIM167410   268220   
Gene and transcription
Genbank (Entrez)AK094779 AY578141 BC121165 BC121166 DB474828
RefSeq transcript (Entrez)NM_001135254 NM_002584 NM_013945
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAX7
Cluster EST : UnigeneHs.113253 [ NCBI ]
CGAP (NCI)Hs.113253
Alternative Splicing GalleryENSG00000009709
Gene ExpressionPAX7 [ NCBI-GEO ]   PAX7 [ EBI - ARRAY_EXPRESS ]   PAX7 [ SEEK ]   PAX7 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5081
GTEX Portal (Tissue expression)PAX7
Human Protein AtlasENSG00000009709-PAX7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23759   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23759  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23759
Splice isoforms : SwissVarP23759
PhosPhoSitePlusP23759
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)    PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    OAR_dom    Paired_dom    Pax7_C    WH-like_DNA-bd_sf   
Domain families : Pfam (Sanger)Homeobox (PF00046)    PAX (PF00292)    Pax7 (PF12360)   
Domain families : Pfam (NCBI)pfam00046    pfam00292    pfam12360   
Domain families : Smart (EMBL)HOX (SM00389)  PAX (SM00351)  
Conserved Domain (NCBI)PAX7
DMDM Disease mutations5081
Blocks (Seattle)PAX7
SuperfamilyP23759
Human Protein Atlas [tissue]ENSG00000009709-PAX7 [tissue]
Peptide AtlasP23759
HPRD01331
IPIIPI00012894   IPI00004431   IPI00719545   
Protein Interaction databases
DIP (DOE-UCLA)P23759
IntAct (EBI)P23759
FunCoupENSG00000009709
BioGRIDPAX7
STRING (EMBL)PAX7
ZODIACPAX7
Ontologies - Pathways
QuickGOP23759
Ontology : AmiGORNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding  DNA-binding transcription factor activity  nucleus  chromatin remodeling  transcription, DNA-templated  anatomical structure morphogenesis  regulation of cell fate commitment  skeletal muscle satellite cell commitment  spinal cord association neuron differentiation  dorsal/ventral neural tube patterning  positive regulation of histone methylation  negative regulation of apoptotic process  regulation of protein binding  skeletal muscle tissue regeneration  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  neuron fate commitment  embryonic skeletal system development  cartilage development  muscle tissue morphogenesis  positive regulation of myoblast proliferation  
Ontology : EGO-EBIRNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding  DNA-binding transcription factor activity  nucleus  chromatin remodeling  transcription, DNA-templated  anatomical structure morphogenesis  regulation of cell fate commitment  skeletal muscle satellite cell commitment  spinal cord association neuron differentiation  dorsal/ventral neural tube patterning  positive regulation of histone methylation  negative regulation of apoptotic process  regulation of protein binding  skeletal muscle tissue regeneration  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  neuron fate commitment  embryonic skeletal system development  cartilage development  muscle tissue morphogenesis  positive regulation of myoblast proliferation  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkPAX7
Atlas of Cancer Signalling NetworkPAX7
Wikipedia pathwaysPAX7
Orthology - Evolution
OrthoDB5081
GeneTree (enSembl)ENSG00000009709
Phylogenetic Trees/Animal Genes : TreeFamPAX7
HOVERGENP23759
HOGENOMP23759
Homologs : HomoloGenePAX7
Homology/Alignments : Family Browser (UCSC)PAX7
Gene fusions - Rearrangements
Fusion : MitelmanPAX7/FOXO1 [1p36.13/13q14.11]  
Fusion : MitelmanUBR4/PAX7 [1p36.13/1p36.13]  [t(1;1)(p36;p36)]  
Fusion PortalUBR4 1p36.13 PAX7 1p36.13 LGG
Fusion : QuiverPAX7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX7
dbVarPAX7
ClinVarPAX7
1000_GenomesPAX7 
Exome Variant ServerPAX7
ExAC (Exome Aggregation Consortium)ENSG00000009709
GNOMAD BrowserENSG00000009709
Varsome BrowserPAX7
Genetic variants : HAPMAP5081
Genomic Variants (DGV)PAX7 [DGVbeta]
DECIPHERPAX7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAX7 
Mutations
ICGC Data PortalPAX7 
TCGA Data PortalPAX7 
Broad Tumor PortalPAX7
OASIS PortalPAX7 [ Somatic mutations - Copy number]
Cancer Gene: CensusPAX7 
Somatic Mutations in Cancer : COSMICPAX7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAX7
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 PAX7
DgiDB (Drug Gene Interaction Database)PAX7
DoCM (Curated mutations)PAX7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAX7 (select a term)
intoGenPAX7
Cancer3DPAX7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM167410    268220   
Orphanet14329   
DisGeNETPAX7
MedgenPAX7
Genetic Testing Registry PAX7
NextProtP23759 [Medical]
TSGene5081
GENETestsPAX7
Target ValidationPAX7
Huge Navigator PAX7 [HugePedia]
snp3D : Map Gene to Disease5081
BioCentury BCIQPAX7
ClinGenPAX7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5081
Chemical/Pharm GKB GenePA32961
Clinical trialPAX7
Miscellaneous
canSAR (ICR)PAX7 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAX7
EVEXPAX7
GoPubMedPAX7
iHOPPAX7
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 : Mon Aug 27 11:42:57 CEST 2018
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