Fusion genes
(updated 2016) | 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 13q14.11 | UBR4 1p36.13 / PAX7 1p36.13 |
| Nomenclature |
|---|
| HGNC (Hugo) | PAX7 8621 |
| Cards |
|---|
| Entrez_Gene (NCBI) | PAX7 5081 paired box 7 |
| Aliases | HUP1; PAX7B; RMS2 |
| GeneCards (Weizmann) | PAX7 |
| Ensembl hg19 (Hinxton) | ENSG00000009709 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000009709 [Gene_View] chr1:18631006-18748866 [Contig_View] PAX7 [Vega] |
| ICGC DataPortal | ENSG00000009709 |
| TCGA cBioPortal | PAX7 |
| AceView (NCBI) | PAX7 |
| Genatlas (Paris) | PAX7 |
| WikiGenes | 5081 |
| SOURCE (Princeton) | PAX7 |
| Genetics Home Reference (NIH) | PAX7 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | PAX7 - chr1:18631006-18748866 + 1p36.13 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | PAX7 - 1p36.13 [Description] (hg19-Feb_2009) |
| Ensembl | PAX7 - 1p36.13 [CytoView hg19] PAX7 - 1p36.13 [CytoView hg38] |
| Mapping of homologs : NCBI | PAX7 [Mapview hg19] PAX7 [Mapview hg38] |
| OMIM | 167410 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 : Unigene | Hs.113253 [ NCBI ] |
| CGAP (NCI) | Hs.113253 |
| Alternative Splicing Gallery | ENSG00000009709 |
| Gene Expression | PAX7 [ 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] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 5081 |
| GTEX Portal (Tissue expression) | PAX7 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P23759 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P23759 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P23759 |
| Splice isoforms : SwissVar | P23759 |
| PhosPhoSitePlus | P23759 |
| Domaine pattern : Prosite (Expaxy) | HOMEOBOX_1 (PS00027) HOMEOBOX_2 (PS50071) OAR (PS50803) PAIRED_1 (PS00034) PAIRED_2 (PS51057) |
| Domains : Interpro (EBI) | Homeobox-like Homeobox_CS Homeobox_dom OAR_dom Paired_dom Pax7_C WHTH_DNA-bd_dom |
| 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 mutations | 5081 |
| Blocks (Seattle) | PAX7 |
| Superfamily | P23759 |
| Human Protein Atlas | ENSG00000009709 |
| Peptide Atlas | P23759 |
| HPRD | 01331 |
| IPI | IPI00012894 IPI00004431 IPI00719545 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P23759 |
| IntAct (EBI) | P23759 |
| FunCoup | ENSG00000009709 |
| BioGRID | PAX7 |
| STRING (EMBL) | PAX7 |
| ZODIAC | PAX7 |
| Ontologies - Pathways |
|---|
| QuickGO | P23759 |
| Ontology : AmiGO | transcription factor activity, RNA polymerase II core promoter sequence-specific transcription factor activity, sequence-specific DNA binding 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 from RNA polymerase II promoter neuron fate commitment embryonic skeletal system development cartilage development muscle tissue morphogenesis positive regulation of myoblast proliferation |
| Ontology : EGO-EBI | transcription factor activity, RNA polymerase II core promoter sequence-specific transcription factor activity, sequence-specific DNA binding 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 from RNA polymerase II promoter neuron fate commitment embryonic skeletal system development cartilage development muscle tissue morphogenesis positive regulation of myoblast proliferation |
| Pathways : KEGG | Transcriptional misregulation in cancer |
| NDEx Network | PAX7 |
| Atlas of Cancer Signalling Network | PAX7 |
| Wikipedia pathways | PAX7 |
| Orthology - Evolution |
|---|
| OrthoDB | 5081 |
| GeneTree (enSembl) | ENSG00000009709 |
| Phylogenetic Trees/Animal Genes : TreeFam | PAX7 |
| HOVERGEN | P23759 |
| HOGENOM | P23759 |
| Homologs : HomoloGene | PAX7 |
| Homology/Alignments : Family Browser (UCSC) | PAX7 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | PAX7/FOXO1 [1p36.13/13q14.11] |
| Fusion : Mitelman | UBR4/PAX7 [1p36.13/1p36.13] [t(1;1)(p36;p36)] |
| Fusion: TCGA | UBR4 1p36.13 PAX7 1p36.13 LGG |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | PAX7 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | PAX7 |
| dbVar | PAX7 |
| ClinVar | PAX7 |
| 1000_Genomes | PAX7 |
| Exome Variant Server | PAX7 |
| ExAC (Exome Aggregation Consortium) | PAX7 (select the gene name) |
| Genetic variants : HAPMAP | 5081 |
| Genomic Variants (DGV) | PAX7 [DGVbeta] |
| DECIPHER | PAX7 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | PAX7 |
| Mutations |
|---|
| ICGC Data Portal | PAX7 |
| TCGA Data Portal | PAX7 |
| Broad Tumor Portal | PAX7 |
| OASIS Portal | PAX7 [ Somatic mutations - Copy number] |
| Cancer Gene: Census | PAX7 |
| Somatic Mutations in Cancer : COSMIC | PAX7 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | PAX7 |
| 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 |
| BioMuta | search 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) |
| intoGen | PAX7 |
| Cancer3D | PAX7(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 167410 268220 |
| Orphanet | 14329 |
| Medgen | PAX7 |
| Genetic Testing Registry | PAX7
|
| NextProt | P23759 [Medical] |
| TSGene | 5081 |
| GENETests | PAX7 |
| Target Validation | PAX7 |
| Huge Navigator |
PAX7 [HugePedia] |
| snp3D : Map Gene to Disease | 5081 |
| BioCentury BCIQ | PAX7 |
| ClinGen | PAX7 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 5081 |
| Chemical/Pharm GKB Gene | PA32961 |
| Clinical trial | PAX7 |
| Miscellaneous |
|---|
| canSAR (ICR) | PAX7 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 57 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | PAX7 |
| EVEX | PAX7 |
| GoPubMed | PAX7 |
| iHOP | PAX7 |
