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Fusion gene ID: 13817 |
FusionGeneSummary for FOXO1_PAX3 |
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Fusion gene information | Fusion gene name: FOXO1_PAX3 | Fusion gene ID: 13817 | Hgene | Tgene | Gene symbol | FOXO1 | PAX3 | Gene ID | 2308 | 5077 |
Gene name | forkhead box O1 | paired box 3 | |
Synonyms | FKH1|FKHR|FOXO1A | CDHS|HUP2|WS1|WS3 | |
Cytomap | 13q14.11 | 2q36.1 | |
Type of gene | protein-coding | protein-coding | |
Description | forkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcoma | paired box protein Pax-3paired box homeotic gene 3paired domain gene 3paired domain gene HuP2transcriptional factor PAX3 | |
Modification date | 20180527 | 20180522 | |
UniProtAcc | Q12778 | P23760 | |
Ensembl transtripts involved in fusion gene | ENST00000379561, ENST00000473775, | ENST00000392069, ENST00000344493, ENST00000350526, ENST00000336840, ENST00000392070, ENST00000409551, ENST00000464706, ENST00000409828, ENST00000258387, | |
Fusion gene scores | * DoF score | 8 X 5 X 5=200 | 2 X 2 X 1=4 |
# samples | 10 | 4 | |
** MAII score | log2(10/200*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/4*10)=3.32192809488736 | |
Context | PubMed: FOXO1 [Title/Abstract] AND PAX3 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | FOXO1 | GO:0009267 | cellular response to starvation | 20543840 |
Hgene | FOXO1 | GO:0032873 | negative regulation of stress-activated MAPK cascade | 19696738 |
Hgene | FOXO1 | GO:0043066 | negative regulation of apoptotic process | 10871843 |
Hgene | FOXO1 | GO:0045893 | positive regulation of transcription, DNA-templated | 7862145|10871843|12228231 |
Hgene | FOXO1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10871843|12228231 |
Hgene | FOXO1 | GO:0071455 | cellular response to hyperoxia | 20543840 |
Tgene | PAX3 | GO:0045893 | positive regulation of transcription, DNA-templated | 11863357 |
Tgene | PAX3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11863357 |
![]() (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 | JX141476 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - | ||
ChiTaRS3.1 | JX141475 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - | ||
ChiTaRS3.1 | JX141474 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000379561 | ENST00000392069 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000344493 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000350526 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000336840 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000392070 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000409551 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-5UTR | ENST00000379561 | ENST00000464706 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000409828 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
5CDS-intron | ENST00000379561 | ENST00000258387 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-3CDS | ENST00000473775 | ENST00000392069 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000344493 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000350526 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000336840 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000392070 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000409551 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-5UTR | ENST00000473775 | ENST00000464706 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000409828 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
intron-intron | ENST00000473775 | ENST00000258387 | FOXO1 | chr13 | 41239718 | - | PAX3 | chr2 | 223066911 | - |
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FusionProtFeatures for FOXO1_PAX3 |
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Hgene | Tgene |
FOXO1 | PAX3 |
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}. |
![]() * 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 | FOXO1 | chr13:41239718 | chr2:223066911 | ENST00000379561 | - | 1 | 3 | 120_130 | 210 | 1440 | Compositional bias | Note=Poly-Pro |
Hgene | FOXO1 | chr13:41239718 | chr2:223066911 | ENST00000379561 | - | 1 | 3 | 152_155 | 210 | 1440 | Compositional bias | Note=Poly-Ser |
Hgene | FOXO1 | chr13:41239718 | chr2:223066911 | ENST00000379561 | - | 1 | 3 | 91_102 | 210 | 1440 | Compositional bias | Note=Poly-Ala |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000258387 | - | 0 | 5 | 219_278 | -84 | 207 | DNA binding | Homeobox |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000336840 | - | 0 | 9 | 219_278 | -127 | 408 | DNA binding | Homeobox |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000344493 | - | 0 | 8 | 219_278 | -127 | 404 | DNA binding | Homeobox |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000409828 | - | 0 | 4 | 219_278 | -44 | 216 | DNA binding | Homeobox |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000258387 | - | 0 | 5 | 34_161 | -84 | 207 | Domain | Paired |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000336840 | - | 0 | 9 | 34_161 | -127 | 408 | Domain | Paired |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000344493 | - | 0 | 8 | 34_161 | -127 | 404 | Domain | Paired |
Tgene | >PAX3 | chr13:41239718 | chr2:223066911 | ENST00000409828 | - | 0 | 4 | 34_161 | -44 | 216 | Domain | Paired |
- 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 | >FOXO1 | chr13:41239718 | chr2:223066911 | ENST00000379561 | - | 1 | 3 | 159_235 | 210 | 1440 | DNA binding | Fork-head |
Hgene | >FOXO1 | chr13:41239718 | chr2:223066911 | ENST00000379561 | - | 1 | 3 | 211_218 | 210 | 1440 | Region | Note=DNA-binding |
Hgene | >FOXO1 | chr13:41239718 | chr2:223066911 | ENST00000379561 | - | 1 | 3 | 234_237 | 210 | 1440 | Region | Note=DNA-binding |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000350526 | - | 6 | 8 | 219_278 | 391 | 480 | DNA binding | Homeobox |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000392069 | - | 6 | 10 | 219_278 | 391 | 506 | DNA binding | Homeobox |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000392070 | - | 6 | 9 | 219_278 | 391 | 485 | DNA binding | Homeobox |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000409551 | - | 6 | 9 | 219_278 | 390 | 484 | DNA binding | Homeobox |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000350526 | - | 6 | 8 | 34_161 | 391 | 480 | Domain | Paired |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000392069 | - | 6 | 10 | 34_161 | 391 | 506 | Domain | Paired |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000392070 | - | 6 | 9 | 34_161 | 391 | 485 | Domain | Paired |
Tgene | PAX3 | chr13:41239718 | chr2:223066911 | ENST00000409551 | - | 6 | 9 | 34_161 | 390 | 484 | Domain | Paired |
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FusionGeneSequence for FOXO1_PAX3 |
![]() (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 FOXO1_PAX3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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 | PAX3 | IPO13, SOX10, DAXX, MSX1, MEOX1, MEOX2, TBP, PSMD4, RAD23B, HDAC10, TRIM28, HDAC1, POU3F2, TAF1, PCTP, SPIN1, SKAP1, FOXE1, FZR1, NELL2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FOXO1_PAX3 |
![]() (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 FOXO1_PAX3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FOXO1 | C0022578 | Keratoconus | 1 | CTD_human |
Hgene | FOXO1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Tgene | PAX3 | C1847800 | Waardenburg Syndrome Type 1 | 14 | ORPHANET;UNIPROT |
Tgene | PAX3 | C0079661 | Klein's Syndrome | 5 | ORPHANET;UNIPROT |
Tgene | PAX3 | C0080178 | Spina Bifida | 4 | CTD_human |
Tgene | PAX3 | C0027794 | Neural Tube Defects | 3 | CTD_human |
Tgene | PAX3 | C1852510 | Craniofacial deafness hand syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | PAX3 | C0011053 | Deafness | 1 | CTD_human;HPO |
Tgene | PAX3 | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
Tgene | PAX3 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | PAX3 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Tgene | PAX3 | C1261473 | Sarcoma | 1 | CTD_human |
Tgene | PAX3 | C1710096 | Sinonasal undifferentiated carcinoma | 1 | CTD_human |
Tgene | PAX3 | C3266898 | Waardenburg Syndrome | 1 | CTD_human |