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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: 10834

FusionGeneSummary for E2F1_RDH11

check button Fusion gene summary
Fusion gene informationFusion gene name: E2F1_RDH11
Fusion gene ID: 10834
HgeneTgene
Gene symbol

E2F1

RDH11

Gene ID

1869

51109

Gene nameE2F transcription factor 1retinol dehydrogenase 11
SynonymsE2F-1|RBAP1|RBBP3|RBP3ARSDR1|CGI82|HCBP12|MDT1|PSDR1|RALR1|RDJCSS|SCALD|SDR7C1
Cytomap

20q11.22

14q24.1

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor E2F1PBR3PRB-binding protein E2F-1RBAP-1RBBP-3retinoblastoma-associated protein 1retinoblastoma-binding protein 3retinol dehydrogenase 11HCV core-binding protein HCBP12androgen-regulated short-chain dehydrogenase/reductase 1prostate short-chain dehydrogenase reductase 1retinal reductase 1retinol dehydrogenase 11 (all-trans/9-cis/11-cis)short chain dehydrogenas
Modification date2018052220180523
UniProtAcc

Q01094

Q8TC12

Ensembl transtripts involved in fusion geneENST00000343380, ENST00000381346, 
ENST00000553384, ENST00000428130, 
Fusion gene scores* DoF score2 X 2 X 1=410 X 9 X 4=360
# samples 210
** MAII scorelog2(2/4*10)=2.32192809488736log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: E2F1 [Title/Abstract] AND RDH11 [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
HgeneE2F1

GO:0006355

regulation of transcription, DNA-templated

12717439

HgeneE2F1

GO:0010628

positive regulation of gene expression

15766563

HgeneE2F1

GO:0043065

positive regulation of apoptotic process

15565177

HgeneE2F1

GO:0043392

negative regulation of DNA binding

20176812

HgeneE2F1

GO:0045892

negative regulation of transcription, DNA-templated

20176812

HgeneE2F1

GO:0045893

positive regulation of transcription, DNA-templated

21454377|22476863

HgeneE2F1

GO:0048255

mRNA stabilization

15766563

TgeneRDH11

GO:0042574

retinal metabolic process

12807874


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
ChiTaRS3.1BQ962146E2F1chr20

32274048

-RDH11chr14

68159775

-
* 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-3CDSENST00000343380ENST00000381346E2F1chr20

32274048

-RDH11chr14

68159775

-
intron-3CDSENST00000343380ENST00000553384E2F1chr20

32274048

-RDH11chr14

68159775

-
intron-3CDSENST00000343380ENST00000428130E2F1chr20

32274048

-RDH11chr14

68159775

-

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FusionProtFeatures for E2F1_RDH11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
E2F1

Q01094

RDH11

Q8TC12

Transcription activator that binds DNA cooperativelywith DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whoseproducts are involved in cell cycle regulation or in DNAreplication. The DRTF1/E2F complex functions in the control ofcell-cycle progression from G1 to S phase. E2F1 bindspreferentially RB1 in a cell-cycle dependent manner. It canmediate both cell proliferation and TP53/p53-dependent apoptosis.Blocks adipocyte differentiation by binding to specific promotersrepressing CEBPA binding to its target gene promoters(PubMed:20176812). Positively regulates transcription of RRP1B(PubMed:20040599). {ECO:0000250|UniProtKB:Q61501,ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:12717439,ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:20040599,ECO:0000269|PubMed:20176812, ECO:0000269|PubMed:8170954}.

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


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FusionGeneSequence for E2F1_RDH11


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 E2F1_RDH11


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


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RelatedDrugs for E2F1_RDH11


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRDH11Q8TC12DB00162Vitamin ARetinol dehydrogenase 11small moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for E2F1_RDH11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneE2F1C0025202melanoma2CTD_human
HgeneE2F1C2239176Liver carcinoma2CTD_human
HgeneE2F1C1458155Mammary Neoplasms1CTD_human