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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FKBP8-ELP6 (FusionGDB2 ID:30526)

Fusion Gene Summary for FKBP8-ELP6

check button Fusion gene summary
Fusion gene informationFusion gene name: FKBP8-ELP6
Fusion gene ID: 30526
HgeneTgene
Gene symbol

FKBP8

ELP6

Gene ID

23770

54859

Gene nameFKBP prolyl isomerase 8elongator acetyltransferase complex subunit 6
SynonymsFKBP38|FKBPr38C3orf75|TMEM103
Cytomap

19p13.11

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-prolyl cis-trans isomerase FKBP838 kDa FK506-binding protein38 kDa FKBPFK506 binding protein 8, 38kDaFK506-binding protein 8FKBP-38FKBP-8PPIase FKBP8hFKBP38rotamaseelongator complex protein 6UPF0405 protein C3orf75angiotonin-transactivated protein 1elongator complex protein 6 homologtransmembrane protein 103
Modification date2020032720200313
UniProtAcc

Q14318

Q0PNE2

Ensembl transtripts involved in fusion geneENST00000222308, ENST00000453489, 
ENST00000596558, ENST00000597960, 
ENST00000608443, ENST00000610101, 
ENST00000296149, ENST00000439305, 
ENST00000446787, ENST00000460502, 
Fusion gene scores* DoF score12 X 15 X 5=9004 X 4 X 4=64
# samples 154
** MAII scorelog2(15/900*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FKBP8 [Title/Abstract] AND ELP6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFKBP8(18652632)-ELP6(47543218), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across FKBP8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ELP6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAI651689FKBP8chr19

18652632

-ELP6chr3

47543218

-


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Fusion Gene ORF analysis for FKBP8-ELP6

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-3CDSENST00000222308ENST00000296149FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000222308ENST00000439305FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000222308ENST00000446787FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000453489ENST00000296149FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000453489ENST00000439305FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000453489ENST00000446787FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000596558ENST00000296149FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000596558ENST00000439305FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000596558ENST00000446787FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000597960ENST00000296149FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000597960ENST00000439305FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000597960ENST00000446787FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000608443ENST00000296149FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000608443ENST00000439305FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000608443ENST00000446787FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000610101ENST00000296149FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000610101ENST00000439305FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-3CDSENST00000610101ENST00000446787FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-intronENST00000222308ENST00000460502FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-intronENST00000453489ENST00000460502FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-intronENST00000596558ENST00000460502FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-intronENST00000597960ENST00000460502FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-intronENST00000608443ENST00000460502FKBP8chr19

18652632

-ELP6chr3

47543218

-
intron-intronENST00000610101ENST00000460502FKBP8chr19

18652632

-ELP6chr3

47543218

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FKBP8-ELP6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FKBP8-ELP6


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:18652632/:47543218)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FKBP8

Q14318

ELP6

Q0PNE2

FUNCTION: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. {ECO:0000269|PubMed:12510191, ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.FUNCTION: Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:22854966). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in cell migration (By similarity). {ECO:0000250|UniProtKB:Q8BK75, ECO:0000269|PubMed:22854966, ECO:0000303|PubMed:29332244}.

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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Fusion Gene Sequence for FKBP8-ELP6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FKBP8-ELP6


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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Related Drugs for FKBP8-ELP6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FKBP8-ELP6


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