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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:IKZF5-ELN (FusionGDB2 ID:39415)

Fusion Gene Summary for IKZF5-ELN

check button Fusion gene summary
Fusion gene informationFusion gene name: IKZF5-ELN
Fusion gene ID: 39415
HgeneTgene
Gene symbol

IKZF5

ELN

Gene ID

64376

100130933

Gene nameIKAROS family zinc finger 5small integral membrane protein 6
SynonymsPEGASUS|ZNFN1A5C17orf110|ELN
Cytomap

10q26.13

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein Pegasuszinc finger protein, subfamily 1A, 5 (Pegasus)zinc finger transcription factor Pegasussmall integral membrane protein 6endoregulin
Modification date2020032220200313
UniProtAcc

Q9H5V7

P15502

Ensembl transtripts involved in fusion geneENST00000368886, ENST00000479103, 
ENST00000252034, ENST00000357036, 
ENST00000358929, ENST00000380584, 
ENST00000429192, ENST00000320399, 
ENST00000320492, ENST00000380553, 
ENST00000380562, ENST00000380575, 
ENST00000380576, ENST00000414324, 
ENST00000445912, ENST00000458204, 
ENST00000466878, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 4 X 3=36
# samples 64
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IKZF5 [Title/Abstract] AND ELN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIKZF5(124754242)-ELN(73484056), # 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
HgeneIKZF5

GO:0000122

negative regulation of transcription by RNA polymerase II

10978333


check buttonFusion gene breakpoints across IKZF5 (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 ELN (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/AAJ708711IKZF5chr10

124754242

+ELNchr7

73484056

+


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Fusion Gene ORF analysis for IKZF5-ELN

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-3UTRENST00000368886ENST00000252034IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000368886ENST00000357036IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000368886ENST00000358929IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000368886ENST00000380584IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000368886ENST00000429192IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000479103ENST00000252034IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000479103ENST00000357036IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000479103ENST00000358929IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000479103ENST00000380584IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-3UTRENST00000479103ENST00000429192IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000320399IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000320492IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000380553IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000380562IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000380575IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000380576IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000414324IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000445912IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000458204IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000368886ENST00000466878IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000320399IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000320492IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000380553IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000380562IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000380575IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000380576IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000414324IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000445912IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000458204IKZF5chr10

124754242

+ELNchr7

73484056

+
intron-intronENST00000479103ENST00000466878IKZF5chr10

124754242

+ELNchr7

73484056

+

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 IKZF5-ELN


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 IKZF5-ELN


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/:124754242/:73484056)
- 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
IKZF5

Q9H5V7

ELN

P15502

FUNCTION: DNA-binding protein that binds to the 5'GNNTGTNG-3' core sequence. Transcriptional repressor. {ECO:0000269|PubMed:10978333}.FUNCTION: Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity). {ECO:0000250|UniProtKB:P54320}.

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 IKZF5-ELN


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 IKZF5-ELN


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 IKZF5-ELN


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 IKZF5-ELN


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