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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13817

FusionGeneSummary for FOXO1_PAX3

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXO1_PAX3
Fusion gene ID: 13817
HgeneTgene
Gene symbol

FOXO1

PAX3

Gene ID

2308

5077

Gene nameforkhead box O1paired box 3
SynonymsFKH1|FKHR|FOXO1ACDHS|HUP2|WS1|WS3
Cytomap

13q14.11

2q36.1

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcomapaired box protein Pax-3paired box homeotic gene 3paired domain gene 3paired domain gene HuP2transcriptional factor PAX3
Modification date2018052720180522
UniProtAcc

Q12778

P23760

Ensembl transtripts involved in fusion geneENST00000379561, ENST00000473775, 
ENST00000392069, ENST00000344493, 
ENST00000350526, ENST00000336840, 
ENST00000392070, ENST00000409551, 
ENST00000464706, ENST00000409828, 
ENST00000258387, 
Fusion gene scores* DoF score8 X 5 X 5=2002 X 2 X 1=4
# samples 104
** MAII scorelog2(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 annotationOncogene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFOXO1

GO:0009267

cellular response to starvation

20543840

HgeneFOXO1

GO:0032873

negative regulation of stress-activated MAPK cascade

19696738

HgeneFOXO1

GO:0043066

negative regulation of apoptotic process

10871843

HgeneFOXO1

GO:0045893

positive regulation of transcription, DNA-templated

7862145|10871843|12228231

HgeneFOXO1

GO:0045944

positive regulation of transcription by RNA polymerase II

10871843|12228231

HgeneFOXO1

GO:0071455

cellular response to hyperoxia

20543840

TgenePAX3

GO:0045893

positive regulation of transcription, DNA-templated

11863357

TgenePAX3

GO:0045944

positive regulation of transcription by RNA polymerase II

11863357


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1JX141476FOXO1chr13

41239718

-PAX3chr2

223066911

-
ChiTaRS3.1JX141475FOXO1chr13

41239718

-PAX3chr2

223066911

-
ChiTaRS3.1JX141474FOXO1chr13

41239718

-PAX3chr2

223066911

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000379561ENST00000392069FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000344493FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000350526FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000336840FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000392070FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000409551FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-5UTRENST00000379561ENST00000464706FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000409828FOXO1chr13

41239718

-PAX3chr2

223066911

-
5CDS-intronENST00000379561ENST00000258387FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-3CDSENST00000473775ENST00000392069FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000344493FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000350526FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000336840FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000392070FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000409551FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-5UTRENST00000473775ENST00000464706FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000409828FOXO1chr13

41239718

-PAX3chr2

223066911

-
intron-intronENST00000473775ENST00000258387FOXO1chr13

41239718

-PAX3chr2

223066911

-

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FusionProtFeatures for FOXO1_PAX3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FOXO1

Q12778

PAX3

P23760

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}.

check buttonRetention 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

download page

.

* 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.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFOXO1chr13:41239718chr2:223066911ENST00000379561-13120_1302101440Compositional biasNote=Poly-Pro
HgeneFOXO1chr13:41239718chr2:223066911ENST00000379561-13152_1552101440Compositional biasNote=Poly-Ser
HgeneFOXO1chr13:41239718chr2:223066911ENST00000379561-1391_1022101440Compositional biasNote=Poly-Ala
TgenePAX3chr13:41239718chr2:223066911ENST00000258387-05219_278-84207DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000336840-09219_278-127408DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000344493-08219_278-127404DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000409828-04219_278-44216DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000258387-0534_161-84207DomainPaired
TgenePAX3chr13:41239718chr2:223066911ENST00000336840-0934_161-127408DomainPaired
TgenePAX3chr13:41239718chr2:223066911ENST00000344493-0834_161-127404DomainPaired
TgenePAX3chr13:41239718chr2:223066911ENST00000409828-0434_161-44216DomainPaired

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFOXO1chr13:41239718chr2:223066911ENST00000379561-13159_2352101440DNA bindingFork-head
HgeneFOXO1chr13:41239718chr2:223066911ENST00000379561-13211_2182101440RegionNote=DNA-binding
HgeneFOXO1chr13:41239718chr2:223066911ENST00000379561-13234_2372101440RegionNote=DNA-binding
TgenePAX3chr13:41239718chr2:223066911ENST00000350526-68219_278391480DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000392069-610219_278391506DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000392070-69219_278391485DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000409551-69219_278390484DNA bindingHomeobox
TgenePAX3chr13:41239718chr2:223066911ENST00000350526-6834_161391480DomainPaired
TgenePAX3chr13:41239718chr2:223066911ENST00000392069-61034_161391506DomainPaired
TgenePAX3chr13:41239718chr2:223066911ENST00000392070-6934_161391485DomainPaired
TgenePAX3chr13:41239718chr2:223066911ENST00000409551-6934_161390484DomainPaired


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FusionGeneSequence for FOXO1_PAX3


check button 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 FOXO1_PAX3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
FOXO1AR, 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, ATMPAX3IPO13, SOX10, DAXX, MSX1, MEOX1, MEOX2, TBP, PSMD4, RAD23B, HDAC10, TRIM28, HDAC1, POU3F2, TAF1, PCTP, SPIN1, SKAP1, FOXE1, FZR1, NELL2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FOXO1_PAX3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FOXO1_PAX3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFOXO1C0022578Keratoconus1CTD_human
HgeneFOXO1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgenePAX3C1847800Waardenburg Syndrome Type 114ORPHANET;UNIPROT
TgenePAX3C0079661Klein's Syndrome5ORPHANET;UNIPROT
TgenePAX3C0080178Spina Bifida4CTD_human
TgenePAX3C0027794Neural Tube Defects3CTD_human
TgenePAX3C1852510Craniofacial deafness hand syndrome2CTD_human;ORPHANET;UNIPROT
TgenePAX3C0011053Deafness1CTD_human;HPO
TgenePAX3C0018566Congenital Hand Deformities1CTD_human
TgenePAX3C0376634Craniofacial Abnormalities1CTD_human
TgenePAX3C0497552Congenital neurologic anomalies1CTD_human
TgenePAX3C1261473Sarcoma1CTD_human
TgenePAX3C1710096Sinonasal undifferentiated carcinoma1CTD_human
TgenePAX3C3266898Waardenburg Syndrome1CTD_human