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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:DDX5-ELOVL5 (FusionGDB2 ID:22028)

Fusion Gene Summary for DDX5-ELOVL5

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX5-ELOVL5
Fusion gene ID: 22028
HgeneTgene
Gene symbol

DDX5

ELOVL5

Gene ID

1655

60481

Gene nameDEAD-box helicase 5ELOVL fatty acid elongase 5
SynonymsG17P1|HLR1|HUMP68|p68HELO1|SCA38|dJ483K16.1
Cytomap

17q23.3

6p12.1

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent RNA helicase DDX5ATP-dependent RNA helicase DDX5DEAD (Asp-Glu-Ala-Asp) box helicase 5DEAD (Asp-Glu-Ala-Asp) box polypeptide 5DEAD box protein 5DEAD box-5DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)RNA helongation 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 polyun
Modification date2020031320200313
UniProtAcc

P17844

Q9NYP7

Ensembl transtripts involved in fusion geneENST00000225792, ENST00000450599, 
ENST00000578804, ENST00000580026, 
ENST00000370918, ENST00000304434, 
ENST00000542638, ENST00000541407, 
ENST00000486973, ENST00000370913, 
Fusion gene scores* DoF score33 X 25 X 10=825010 X 9 X 3=270
# samples 2710
** MAII scorelog2(27/8250*10)=-4.93336280696971
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/270*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX5 [Title/Abstract] AND ELOVL5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDX5(62499050)-ELOVL5(53138076), # 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
HgeneDDX5

GO:0000122

negative regulation of transcription by RNA polymerase II

15298701

HgeneDDX5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

21343338

HgeneDDX5

GO:0000956

nuclear-transcribed mRNA catabolic process

23788676

TgeneELOVL5

GO:0034625

fatty acid elongation, monounsaturated fatty acid

20427700

TgeneELOVL5

GO:0034626

fatty acid elongation, polyunsaturated fatty acid

20427700|20937905

TgeneELOVL5

GO:0042761

very long-chain fatty acid biosynthetic process

20427700|20937905


check buttonFusion gene breakpoints across DDX5 (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 ELOVL5 (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/ABF096087DDX5chr17

62499050

-ELOVL5chr6

53138076

+


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Fusion Gene ORF analysis for DDX5-ELOVL5

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-3CDSENST00000225792ENST00000370918DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000225792ENST00000304434DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000225792ENST00000542638DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000225792ENST00000541407DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000225792ENST00000486973DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000225792ENST00000370913DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000450599ENST00000370918DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000450599ENST00000304434DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000450599ENST00000542638DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000450599ENST00000541407DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000450599ENST00000486973DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000450599ENST00000370913DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000578804ENST00000370918DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000578804ENST00000304434DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000578804ENST00000542638DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000578804ENST00000541407DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000578804ENST00000486973DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000578804ENST00000370913DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000580026ENST00000370918DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000580026ENST00000304434DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000580026ENST00000542638DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-3CDSENST00000580026ENST00000541407DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000580026ENST00000486973DDX5chr17

62499050

-ELOVL5chr6

53138076

+
intron-intronENST00000580026ENST00000370913DDX5chr17

62499050

-ELOVL5chr6

53138076

+

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 DDX5-ELOVL5


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 DDX5-ELOVL5


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
DDX5

P17844

ELOVL5

Q9NYP7

FUNCTION: Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms. {ECO:0000269|PubMed:12527917, ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:15660129, ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17960593, ECO:0000269|PubMed:18829551, ECO:0000269|PubMed:19718048, ECO:0000269|PubMed:21343338}.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}.

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 DDX5-ELOVL5


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 DDX5-ELOVL5


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 DDX5-ELOVL5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneELOVL5Q9NYP7DB00132alpha-Linolenic acidSubstrateSmall moleculeApproved|Investigational|Nutraceutical
TgeneELOVL5Q9NYP7DB00132alpha-Linolenic acidSubstrateSmall moleculeApproved|Investigational|Nutraceutical
TgeneELOVL5Q9NYP7DB00132alpha-Linolenic acidSubstrateSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for DDX5-ELOVL5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX5C0014175Endometriosis1CTD_human
HgeneDDX5C0269102Endometrioma1CTD_human
TgeneELOVL5C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneELOVL5C4518337Spinocerebellar ataxia type 381GENOMICS_ENGLAND;ORPHANET;UNIPROT