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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: 11483

FusionGeneSummary for ELOF1_RDH8

check button Fusion gene summary
Fusion gene informationFusion gene name: ELOF1_RDH8
Fusion gene ID: 11483
HgeneTgene
Gene symbol

ELOF1

RDH8

Gene ID

84337

50700

Gene nameelongation factor 1 homologretinol dehydrogenase 8
SynonymsELF1PRRDH|SDR28C2
Cytomap

19p13.2

19p13.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription elongation factor 1 homologELF1 homolog, elongation factor 1elongation factor 1 homolog (ELF1, S. cerevisiae)retinol dehydrogenase 8photoreceptor outer segment all-trans retinol dehydrogenaseretinol dehydrogenase 8 (all-trans)short chain dehydrogenase/reductase family 28C member 2
Modification date2018052920180329
UniProtAcc

P60002

Q9NYR8

Ensembl transtripts involved in fusion geneENST00000586683, ENST00000252445, 
ENST00000587806, ENST00000589171, 
ENST00000591674, ENST00000586120, 
ENST00000590700, ENST00000591912, 
ENST00000171214, ENST00000591589, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 1 X 2=4
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/4*10)=2.90689059560852
Context

PubMed: ELOF1 [Title/Abstract] AND RDH8 [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

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
TCGARVKIRCTCGA-B0-5084-01AELOF1chr19

11670006

-RDH8chr19

10127733

+
* 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
5UTR-3CDSENST00000586683ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
5UTR-3CDSENST00000586683ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
5UTR-3CDSENST00000252445ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
5UTR-3CDSENST00000252445ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000587806ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000587806ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000589171ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000589171ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000591674ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000591674ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000586120ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000586120ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
5UTR-3CDSENST00000590700ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
5UTR-3CDSENST00000590700ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000591912ENST00000171214ELOF1chr19

11670006

-RDH8chr19

10127733

+
intron-3CDSENST00000591912ENST00000591589ELOF1chr19

11670006

-RDH8chr19

10127733

+

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FusionProtFeatures for ELOF1_RDH8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ELOF1

P60002

RDH8

Q9NYR8

Transcription elongation factor implicated in themaintenance of proper chromatin structure in actively transcribedregions. {ECO:0000250}. Retinol dehydrogenase with a clear preference for NADP.Converts all-trans-retinal to all-trans-retinol. May play a rolein the regeneration of visual pigment at high light intensity (Bysimilarity). {ECO:0000250}.

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 ELOF1_RDH8


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 ELOF1_RDH8


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
ELOF1C5orf22, ATP5C1, MAPK6, CHMP6, KDM1A, SUV39H1, AURKA, SMURF1RDH8


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 ELOF1_RDH8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRDH8Q9NYR8DB00162Vitamin ARetinol dehydrogenase 8small moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for ELOF1_RDH8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource