Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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 1p36.13 / FOXO1 13q14.11UBR4 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

External links

Nomenclature
HGNC (Hugo)PAX7   8621
Cards
Entrez_Gene (NCBI)PAX7    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
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
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
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_DNA-bd_dom    Paired_dom    Pax7_C    PAX_fam    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
SuperfamilyP23759
AlphaFold pdb e-kbP23759   
Human Protein Atlas [tissue]ENSG00000009709-PAX7 [tissue]
HPRD01331
Protein Interaction databases
DIP (DOE-UCLA)P23759
IntAct (EBI)P23759
BioGRIDPAX7
STRING (EMBL)PAX7
ZODIACPAX7
Ontologies - Pathways
QuickGOP23759
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  nucleus  regulation of transcription by RNA polymerase II  muscle organ development  anatomical structure morphogenesis  negative regulation of apoptotic process  anatomical structure development  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  nucleus  regulation of transcription by RNA polymerase II  muscle organ development  anatomical structure morphogenesis  negative regulation of apoptotic process  anatomical structure development  sequence-specific double-stranded DNA binding  
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
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
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]  
Somatic Mutations in Cancer : COSMIC3DPAX7
Mutations and Diseases : HGMDPAX7
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
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)
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]
GENETestsPAX7
Target ValidationPAX7
Huge Navigator PAX7 [HugePedia]
ClinGenPAX7
Clinical trials, drugs, therapy
MyCancerGenomePAX7
Protein Interactions : CTDPAX7
Pharm GKB GenePA32961
PharosP23759
Clinical trialPAX7
Miscellaneous
canSAR (ICR)PAX7
HarmonizomePAX7
DataMed IndexPAX7
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPAX7
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 : Wed Sep 15 22:29:39 CEST 2021
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.