FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 13819

FusionGeneSummary for FOXO1_RB1CC1

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXO1_RB1CC1
Fusion gene ID: 13819
HgeneTgene
Gene symbol

FOXO1

RB1CC1

Gene ID

2308

9821

Gene nameforkhead box O1RB1 inducible coiled-coil 1
SynonymsFKH1|FKHR|FOXO1AATG17|CC1|FIP200|PPP1R131
Cytomap

13q14.11

8q11.23

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcomaRB1-inducible coiled-coil protein 1200 kDa FAK family kinase-interacting proteinFAK family kinase-interacting protein of 200 kDaphosphatase 1, regulatory subunit 131
Modification date2018052720180527
UniProtAcc

Q12778

Q8TDY2

Ensembl transtripts involved in fusion geneENST00000379561, ENST00000473775, 
ENST00000025008, ENST00000435644, 
ENST00000521611, ENST00000539297, 
Fusion gene scores* DoF score8 X 5 X 5=2007 X 7 X 5=245
# samples 107
** MAII scorelog2(10/200*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FOXO1 [Title/Abstract] AND RB1CC1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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


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
ChiTaRS3.1BE767460FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
* 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
intron-3CDSENST00000379561ENST00000025008FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-3CDSENST00000379561ENST00000435644FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-intronENST00000379561ENST00000521611FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-intronENST00000379561ENST00000539297FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-3CDSENST00000473775ENST00000025008FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-3CDSENST00000473775ENST00000435644FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-intronENST00000473775ENST00000521611FOXO1chr13

41134794

+RB1CC1chr8

53537330

-
intron-intronENST00000473775ENST00000539297FOXO1chr13

41134794

+RB1CC1chr8

53537330

-

Top

FusionProtFeatures for FOXO1_RB1CC1


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

Q12778

RB1CC1

Q8TDY2

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}. Involved in autophagy (PubMed:21775823). Regulates earlyevents but also late events of autophagosome formation throughdirect interaction with Atg16L1 (PubMed:23392225). Required forthe formation of the autophagosome-like double-membrane structurethat surrounds the Salmonella-containing vacuole (SCV) duringS.typhimurium infection and subsequent xenophagy (By similarity).Involved in repair of DNA damage caused by ionizing radiation,which subsequently improves cell survival by decreasing apoptosis(By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinaseactivity, affecting their downstream signaling pathways(PubMed:10769033, PubMed:12221124). Plays a role as a modulator ofTGF-beta-signaling by restricting substrate specificity of RNF111(By similarity). Functions as a DNA-binding transcription factor(PubMed:12095676). Is a potent regulator of the RB1 pathwaythrough induction of RB1 expression (PubMed:14533007). Plays acrucial role in muscular differentiation (PubMed:12163359). Playsan indispensable role in fetal hematopoiesis and in the regulationof neuronal homeostasis (By similarity).{ECO:0000250|UniProtKB:Q9ESK9, ECO:0000269|PubMed:10769033,ECO:0000269|PubMed:12095676, ECO:0000269|PubMed:12163359,ECO:0000269|PubMed:12221124, ECO:0000269|PubMed:14533007,ECO:0000269|PubMed:21775823, ECO:0000269|PubMed:23392225}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for FOXO1_RB1CC1


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).

Top

FusionGenePPI for FOXO1_RB1CC1


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


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


Top

RelatedDrugs for FOXO1_RB1CC1


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

Top

RelatedDiseases for FOXO1_RB1CC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFOXO1C0022578Keratoconus1CTD_human
HgeneFOXO1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneRB1CC1C0036341Schizophrenia1CTD_human
TgeneRB1CC1C1458155Mammary Neoplasms1CTD_human