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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:ELOVL5-PFKFB3 (FusionGDB2 ID:26281)

Fusion Gene Summary for ELOVL5-PFKFB3

check button Fusion gene summary
Fusion gene informationFusion gene name: ELOVL5-PFKFB3
Fusion gene ID: 26281
HgeneTgene
Gene symbol

ELOVL5

PFKFB3

Gene ID

60481

5209

Gene nameELOVL fatty acid elongase 56-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
SynonymsHELO1|SCA38|dJ483K16.1IPFK2|PFK2|iPFK-2
Cytomap

6p12.1

10p15.1

Type of geneprotein-codingprotein-coding
Descriptionelongation of very long chain fatty acids protein 53-keto acyl-CoA synthase ELOVL5ELOVL FA elongase 5ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)fatty acid elongase 1homolog of yeast long chain polyun6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 36-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase6PF-2-K/Fru-2,6-P2ase 36PF-2-K/Fru-2,6-P2ase brain/placenta-type isozymePFK/FBPase 3fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase
Modification date2020031320200329
UniProtAcc

Q9NYP7

.
Ensembl transtripts involved in fusion geneENST00000370918, ENST00000304434, 
ENST00000542638, ENST00000541407, 
ENST00000486973, ENST00000370913, 
ENST00000536985, ENST00000379789, 
ENST00000540253, ENST00000317350, 
ENST00000379785, ENST00000379782, 
ENST00000360521, ENST00000379775, 
Fusion gene scores* DoF score8 X 2 X 7=11210 X 9 X 4=360
# samples 812
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELOVL5 [Title/Abstract] AND PFKFB3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELOVL5(53213615)-PFKFB3(6255586), # samples:3
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
HgeneELOVL5

GO:0034625

fatty acid elongation, monounsaturated fatty acid

20427700

HgeneELOVL5

GO:0034626

fatty acid elongation, polyunsaturated fatty acid

20427700|20937905

HgeneELOVL5

GO:0042761

very long-chain fatty acid biosynthetic process

20427700|20937905


check buttonFusion gene breakpoints across ELOVL5 (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 PFKFB3 (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
ChimerDB4KIRPTCGA-UZ-A9PQ-01AELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
ChimerDB4KIRPTCGA-UZ-A9PQELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
ChimerDB4KIRPTCGA-UZ-A9PQ-01AELOVL5chr6

53213615

-PFKFB3chr10

6255586

+


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Fusion Gene ORF analysis for ELOVL5-PFKFB3

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-3CDSENST00000370918ENST00000536985ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000379789ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000540253ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000317350ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000379785ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000379782ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000360521ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370918ENST00000379775ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000536985ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000379789ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000540253ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000317350ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000379785ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000379782ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000360521ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000304434ENST00000379775ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000536985ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000379789ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000540253ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000317350ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000379785ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000379782ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000360521ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
intron-3CDSENST00000542638ENST00000379775ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000536985ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000379789ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000540253ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000317350ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000379785ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000379782ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000360521ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000541407ENST00000379775ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000536985ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000379789ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000540253ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000317350ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000379785ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000379782ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000360521ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000486973ENST00000379775ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000536985ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000379789ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000540253ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000317350ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000379785ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000379782ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000360521ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+
5UTR-3CDSENST00000370913ENST00000379775ELOVL5chr6

53213615

-PFKFB3chr10

6255586

+

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 ELOVL5-PFKFB3


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)
ELOVL5chr653213614-PFKFB3chr106255585+2.82E-070.99999976
ELOVL5chr653213614-PFKFB3chr106255585+2.82E-070.99999976
ELOVL5chr653213614-PFKFB3chr106255585+2.82E-070.99999976
ELOVL5chr653213614-PFKFB3chr106255585+2.82E-070.99999976

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 ELOVL5-PFKFB3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ELOVL5

Q9NYP7

.
FUNCTION: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity). {ECO:0000250|UniProtKB:Q8BHI7, ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 ELOVL5-PFKFB3


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 ELOVL5-PFKFB3


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 ELOVL5-PFKFB3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneELOVL5Q9NYP7DB00132alpha-Linolenic acidSubstrateSmall moleculeApproved|Investigational|Nutraceutical
HgeneELOVL5Q9NYP7DB00132alpha-Linolenic acidSubstrateSmall moleculeApproved|Investigational|Nutraceutical
HgeneELOVL5Q9NYP7DB00132alpha-Linolenic acidSubstrateSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for ELOVL5-PFKFB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELOVL5C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneELOVL5C4518337Spinocerebellar ataxia type 381GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePFKFB3C0005586Bipolar Disorder1PSYGENET
TgenePFKFB3C0011570Mental Depression1PSYGENET
TgenePFKFB3C0028754Obesity1CTD_human
TgenePFKFB3C0037274Dermatologic disorders1CTD_human
TgenePFKFB3C0041696Unipolar Depression1PSYGENET
TgenePFKFB3C0151744Myocardial Ischemia1CTD_human
TgenePFKFB3C0274861Arsenic Poisoning, Inorganic1CTD_human
TgenePFKFB3C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgenePFKFB3C0311375Arsenic Poisoning1CTD_human
TgenePFKFB3C0525045Mood Disorders1PSYGENET
TgenePFKFB3C0751851Arsenic Encephalopathy1CTD_human
TgenePFKFB3C0751852Arsenic Induced Polyneuropathy1CTD_human
TgenePFKFB3C1269683Major Depressive Disorder1PSYGENET