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Fusion gene ID: 26082 |
FusionGeneSummary for PAX7_FOXO1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAX7_FOXO1 | Fusion gene ID: 26082 | Hgene | Tgene | Gene symbol | PAX7 | FOXO1 | Gene ID | 5081 | 2308 |
| Gene name | paired box 7 | forkhead box O1 | |
| Synonyms | HUP1|PAX7B|RMS2 | FKH1|FKHR|FOXO1A | |
| Cytomap | 1p36.13 | 13q14.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | paired box protein Pax-7PAX7 transcriptional factorpaired box homeotic gene 7paired domain gene 7 | forkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcoma | |
| Modification date | 20180527 | 20180527 | |
| UniProtAcc | P23759 | Q12778 | |
| Ensembl transtripts involved in fusion gene | ENST00000375375, ENST00000420770, ENST00000400661, | ENST00000379561, ENST00000473775, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 8 X 6 X 4=192 |
| # samples | 2 | 12 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(12/192*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PAX7 [Title/Abstract] AND FOXO1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | FOXO1 | GO:0009267 | cellular response to starvation | 20543840 |
| Tgene | FOXO1 | GO:0032873 | negative regulation of stress-activated MAPK cascade | 19696738 |
| Tgene | FOXO1 | GO:0043066 | negative regulation of apoptotic process | 10871843 |
| Tgene | FOXO1 | GO:0045893 | positive regulation of transcription, DNA-templated | 7862145|10871843|12228231 |
| Tgene | FOXO1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10871843|12228231 |
| Tgene | FOXO1 | GO:0071455 | cellular response to hyperoxia | 20543840 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | HQ824715 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000375375 | ENST00000379561 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
| 5CDS-5UTR | ENST00000375375 | ENST00000473775 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
| In-frame | ENST00000420770 | ENST00000379561 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
| 5CDS-5UTR | ENST00000420770 | ENST00000473775 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
| In-frame | ENST00000400661 | ENST00000379561 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
| 5CDS-5UTR | ENST00000400661 | ENST00000473775 | PAX7 | chr1 | 19029790 | + | FOXO1 | chr13 | 41135000 | - |
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FusionProtFeatures for PAX7_FOXO1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAX7 | FOXO1 |
| Transcription factor playing a role in myogenesisthrough regulation of muscle precursor cells proliferation.{ECO:0000250|UniProtKB:P47239}. | Transcription factor that is the main target of insulinsignaling and regulates metabolic homeostasis in response tooxidative stress. Binds to the insulin response element (IRE) withconsensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3'. Activity suppressed by insulin. Main regulator ofredox balance and osteoblast numbers and controls bone mass.Orchestrates the endocrine function of the skeleton in regulatingglucose metabolism. Acts synergistically with ATF4 to suppressosteocalcin/BGLAP activity, increasing glucose levels andtriggering glucose intolerance and insulin insensitivity. Alsosuppresses the transcriptional activity of RUNX2, an upstreamactivator of osteocalcin/BGLAP. In hepatocytes, promotesgluconeogenesis by acting together with PPARGC1A and CEBPA toactivate the expression of genes such as IGFBP1, G6PC and PCK1.Important regulator of cell death acting downstream of CDK1,PKB/AKT1 and STK4/MST1. Promotes neural cell death. Mediatesinsulin action on adipose tissue. Regulates the expression ofadipogenic genes such as PPARG during preadipocyte differentiationand, adipocyte size and adipose tissue-specific gene expression inresponse to excessive calorie intake. Regulates thetranscriptional activity of GADD45A and repair of nitric oxide-damaged DNA in beta-cells. Required for the autophagic cell deathinduction in response to starvation or oxidative stress in atranscription-independent manner. Mediates the function of MLIP incardiomyocytes hypertrophy and cardiac remodeling (By similarity).{ECO:0000250|UniProtKB:G3V7R4, ECO:0000250|UniProtKB:Q9R1E0,ECO:0000269|PubMed:10358076, ECO:0000269|PubMed:12228231,ECO:0000269|PubMed:15220471, ECO:0000269|PubMed:15890677,ECO:0000269|PubMed:18356527, ECO:0000269|PubMed:19221179,ECO:0000269|PubMed:20543840, ECO:0000269|PubMed:21245099}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | PAX7 | chr1:19029790 | chr13:41135000 | ENST00000375375 | + | 7 | 8 | 217_276 | 385 | 521 | DNA binding | Homeobox |
| Hgene | PAX7 | chr1:19029790 | chr13:41135000 | ENST00000400661 | + | 7 | 8 | 217_276 | 383 | 519 | DNA binding | Homeobox |
| Hgene | PAX7 | chr1:19029790 | chr13:41135000 | ENST00000420770 | + | 7 | 9 | 217_276 | 385 | 506 | DNA binding | Homeobox |
| Hgene | PAX7 | chr1:19029790 | chr13:41135000 | ENST00000375375 | + | 7 | 8 | 34_163 | 385 | 521 | Domain | Paired |
| Hgene | PAX7 | chr1:19029790 | chr13:41135000 | ENST00000400661 | + | 7 | 8 | 34_163 | 383 | 519 | Domain | Paired |
| Hgene | PAX7 | chr1:19029790 | chr13:41135000 | ENST00000420770 | + | 7 | 9 | 34_163 | 385 | 506 | Domain | Paired |
| Tgene | >FOXO1 | chr1:19029790 | chr13:41135000 | ENST00000379561 | - | 0 | 3 | 211_218 | 210 | 1440 | Region | Note=DNA-binding |
| Tgene | >FOXO1 | chr1:19029790 | chr13:41135000 | ENST00000379561 | - | 0 | 3 | 234_237 | 210 | 1440 | Region | Note=DNA-binding |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >PAX7 | chr1:19029790 | chr13:41135000 | ENST00000375375 | + | 7 | 8 | 479_491 | 385 | 521 | Motif | OAR |
| Hgene | >PAX7 | chr1:19029790 | chr13:41135000 | ENST00000400661 | + | 7 | 8 | 479_491 | 383 | 519 | Motif | OAR |
| Hgene | >PAX7 | chr1:19029790 | chr13:41135000 | ENST00000420770 | + | 7 | 9 | 479_491 | 385 | 506 | Motif | OAR |
| Tgene | FOXO1 | chr1:19029790 | chr13:41135000 | ENST00000379561 | - | 0 | 3 | 120_130 | 210 | 1440 | Compositional bias | Note=Poly-Pro |
| Tgene | FOXO1 | chr1:19029790 | chr13:41135000 | ENST00000379561 | - | 0 | 3 | 152_155 | 210 | 1440 | Compositional bias | Note=Poly-Ser |
| Tgene | FOXO1 | chr1:19029790 | chr13:41135000 | ENST00000379561 | - | 0 | 3 | 91_102 | 210 | 1440 | Compositional bias | Note=Poly-Ala |
| Tgene | FOXO1 | chr1:19029790 | chr13:41135000 | ENST00000379561 | - | 0 | 3 | 159_235 | 210 | 1440 | DNA binding | Fork-head |
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FusionGeneSequence for PAX7_FOXO1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PAX7_FOXO1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PAX7 | WDR5, ASH2L, TRIM27, MYOD1, NEDD4, CSNK2A1 | FOXO1 | AR, SMAD3, SMAD4, CREBBP, YWHAG, YWHAZ, TSC2, ESR1, CEBPB, HOXA5, HNF4A, RFWD2, PARP1, HOXA11, LRPPRC, SKP2, PML, SIRT1, AKT1, SIRT2, ATG7, STUB1, NLK, MDM2, RARA, FSHR, IRF3, FHL2, EP300, MST1, YWHAQ, NCOA1, PIK3R3, TENC1, XPO1, CCNB1, CDKN1A, GSK3B, FOXO1, FOXO4, RECQL, FOXO3B, CUX1, DLX5, HOXD13, SATB1, SATB2, SMARCA4, SETD7, MORF4L2, SNX17, RB1, DNAJC9, FOXO6, PRKACA, CRY1, PITX1, SIRT7, ATM |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PAX7_FOXO1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PAX7_FOXO1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FOXO1 | C0022578 | Keratoconus | 1 | CTD_human |
| Tgene | FOXO1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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