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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:IKZF1-COBL (FusionGDB2 ID:39387)

Fusion Gene Summary for IKZF1-COBL

check button Fusion gene summary
Fusion gene informationFusion gene name: IKZF1-COBL
Fusion gene ID: 39387
HgeneTgene
Gene symbol

IKZF1

COBL

Gene ID

10320

23242

Gene nameIKAROS family zinc finger 1cordon-bleu WH2 repeat protein
SynonymsCVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1-
Cytomap

7p12.2

7p12.1

Type of geneprotein-codingprotein-coding
DescriptionDNA-binding protein IkarosCLL-associated antigen KW-6ikaros family zinc finger protein 1lymphoid transcription factor LyF-1protein phosphatase 1, regulatory subunit 92zinc finger protein, subfamily 1A, 1 (Ikaros)protein cordon-bleu
Modification date2020032920200313
UniProtAcc

Q13422

Q53SF7

Ensembl transtripts involved in fusion geneENST00000413698, ENST00000331340, 
ENST00000343574, ENST00000346667, 
ENST00000349824, ENST00000357364, 
ENST00000359197, ENST00000438033, 
ENST00000439701, ENST00000440768, 
ENST00000492782, 		ENST00000265136, 
ENST00000395540, ENST00000395542, 
ENST00000441453, 
Fusion gene scores* DoF score8 X 7 X 6=3365 X 6 X 4=120
# samples 86
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IKZF1 [Title/Abstract] AND COBL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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 IKZF1 (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 COBL (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
ChimerKB4..IKZF1chr7

50344377

+COBLchr7

50344377

-
ChimerKB4..IKZF1chr7

50367233

+COBLchr7

50367233

-


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Fusion Gene ORF analysis for IKZF1-COBL

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-intronENST00000413698ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
5UTR-intronENST00000413698ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
5UTR-intronENST00000413698ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
5UTR-intronENST00000413698ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000331340ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000331340ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000331340ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000331340ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000331340ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000331340ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000331340ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000331340ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000343574ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000343574ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000343574ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000343574ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000343574ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000343574ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000343574ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000343574ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000346667ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000346667ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000346667ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000346667ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000346667ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000346667ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000346667ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000346667ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000349824ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000349824ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000349824ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000349824ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000349824ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000349824ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000349824ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000349824ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000357364ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000357364ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000357364ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000357364ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000357364ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000357364ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000357364ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000357364ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000359197ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000359197ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000359197ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000359197ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000359197ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000359197ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000359197ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000359197ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000413698ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000413698ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000413698ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000413698ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000438033ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000438033ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000438033ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000438033ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000438033ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000438033ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000438033ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000438033ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000439701ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000439701ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000439701ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000439701ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000439701ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000439701ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000439701ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000439701ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000440768ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000440768ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000440768ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000440768ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000440768ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000440768ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000440768ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000440768ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000492782ENST00000265136IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000492782ENST00000265136IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000492782ENST00000395540IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000492782ENST00000395540IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000492782ENST00000395542IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000492782ENST00000395542IKZF1chr7

50367233

+COBLchr7

50367233

-
intron-intronENST00000492782ENST00000441453IKZF1chr7

50344377

+COBLchr7

50344377

-
intron-intronENST00000492782ENST00000441453IKZF1chr7

50367233

+COBLchr7

50367233

-

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 IKZF1-COBL


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 IKZF1-COBL


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/:/:)
- 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
IKZF1

Q13422

COBL

Q53SF7

FUNCTION: Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067). {ECO:0000250|UniProtKB:Q03267, ECO:0000269|PubMed:10204490, ECO:0000269|PubMed:17135265, ECO:0000269|PubMed:17934067, ECO:0000269|PubMed:19141594}.

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 IKZF1-COBL


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 IKZF1-COBL


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 IKZF1-COBL


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 IKZF1-COBL


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