Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PAX7 (paired box 7)

Identity

Alias (NCBI)HUP1
MYOSCO
PAX7B
RMS2
HGNC (Hugo) PAX7
HGNC Alias symbHup1
HGNC Previous namepaired box gene 7
LocusID (NCBI) 5081
Atlas_Id 68
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 18630846 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; MYOSCO; PAX7B; RMS2
GeneCards (Weizmann)PAX7
Ensembl hg19 (Hinxton)ENSG00000009709 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000009709 [Gene_View]  ENSG00000009709 [Sequence]  chr1:18630846-18736138 [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  -     chr1:18630846-18736138 +  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX7  -     1p36.13   [Description]    (hg19-Feb_2009)
GoldenPathPAX7 - 1p36.13 [CytoView hg19]  PAX7 - 1p36.13 [CytoView hg38]
ImmunoBaseENSG00000009709
genome Data Viewer NCBIPAX7 [Mapview hg19]  
OMIM167410   268220   618578   
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
Alternative Splicing GalleryENSG00000009709
Gene ExpressionPAX7 [ NCBI-GEO ]   PAX7 [ EBI - ARRAY_EXPRESS ]   PAX7 [ SEEK ]   PAX7 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX7 [ Firebrowse - Broad ]
GenevisibleExpression of PAX7 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)Homeodomain (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 : AmiGOnuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  chromatin remodeling  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  skeletal muscle tissue regeneration  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  neuron fate commitment  embryonic skeletal system development  regulation of DNA binding  cartilage development  muscle tissue morphogenesis  positive regulation of myoblast proliferation  
Ontology : EGO-EBInuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  chromatin remodeling  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  skeletal muscle tissue regeneration  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  neuron fate commitment  embryonic skeletal system development  regulation of DNA binding  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
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]  
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
MonarchPAX7
1000_GenomesPAX7 
Exome Variant ServerPAX7
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]
Somatic Mutations in Cancer : COSMICPAX7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPAX7
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    618578   
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
Protein Interactions : CTD5081
Pharm GKB GenePA32961
Clinical trialPAX7
Miscellaneous
canSAR (ICR)PAX7 (select the gene name)
HarmonizomePAX7
DataMed IndexPAX7
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAX7
EVEXPAX7
GoPubMedPAX7
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 14 14:25:52 CEST 2020
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