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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:CREB3L2-IKZF1 (FusionGDB2 ID:19323)

Fusion Gene Summary for CREB3L2-IKZF1

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB3L2-IKZF1
Fusion gene ID: 19323
HgeneTgene
Gene symbol

CREB3L2

IKZF1

Gene ID

64764

10320

Gene namecAMP responsive element binding protein 3 like 2IKAROS family zinc finger 1
SynonymsBBF2H7CVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1
Cytomap

7q33

7p12.2

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2DNA-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)
Modification date2020031320200329
UniProtAcc

Q70SY1

Q13422

Ensembl transtripts involved in fusion geneENST00000330387, ENST00000452463, 
ENST00000456390, ENST00000468127, 
ENST00000458726, 		ENST00000331340, 
ENST00000343574, ENST00000346667, 
ENST00000349824, ENST00000357364, 
ENST00000413698, ENST00000438033, 
ENST00000439701, ENST00000492782, 
ENST00000359197, ENST00000440768, 
Fusion gene scores* DoF score15 X 16 X 7=16806 X 5 X 4=120
# samples 186
** MAII scorelog2(18/1680*10)=-3.22239242133645
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: CREB3L2 [Title/Abstract] AND IKZF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREB3L2(137686350)-IKZF1(50444230), # samples:1
Anticipated loss of major functional domain due to fusion event.CREB3L2-IKZF1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
CREB3L2-IKZF1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneCREB3L2

GO:0045893

positive regulation of transcription, DNA-templated

17178827


check buttonFusion gene breakpoints across CREB3L2 (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 IKZF1 (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/ADB194731CREB3L2chr7

137686350

-IKZF1chr7

50444230

+


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Fusion Gene ORF analysis for CREB3L2-IKZF1

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
5CDS-intronENST00000330387ENST00000331340CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000343574CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000346667CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000349824CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000357364CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000413698CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000438033CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000439701CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000330387ENST00000492782CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000331340CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000343574CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000346667CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000349824CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000357364CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000413698CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000438033CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000439701CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000452463ENST00000492782CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000331340CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000343574CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000346667CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000349824CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000357364CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000413698CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000438033CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000439701CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5CDS-intronENST00000456390ENST00000492782CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-3CDSENST00000468127ENST00000359197CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-3CDSENST00000468127ENST00000440768CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000331340CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000343574CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000346667CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000349824CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000357364CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000413698CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000438033CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000439701CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
5UTR-intronENST00000468127ENST00000492782CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
Frame-shiftENST00000330387ENST00000359197CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
Frame-shiftENST00000330387ENST00000440768CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
Frame-shiftENST00000452463ENST00000359197CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
Frame-shiftENST00000452463ENST00000440768CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
Frame-shiftENST00000456390ENST00000359197CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
Frame-shiftENST00000456390ENST00000440768CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-3CDSENST00000458726ENST00000359197CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-3CDSENST00000458726ENST00000440768CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000331340CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000343574CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000346667CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000349824CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000357364CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000413698CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000438033CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000439701CREB3L2chr7

137686350

-IKZF1chr7

50444230

+
intron-intronENST00000458726ENST00000492782CREB3L2chr7

137686350

-IKZF1chr7

50444230

+

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 CREB3L2-IKZF1


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)
CREB3L2chr7137686349-IKZF1chr750444230+0.0043334230.9956665
CREB3L2chr7137686349-IKZF1chr750444230+0.0043334230.9956665

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.
genomic feature of top 1%

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Fusion Protein Features for CREB3L2-IKZF1


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/:137686350/:50444230)
- 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
CREB3L2

Q70SY1

IKZF1

Q13422

FUNCTION: Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827). {ECO:0000250|UniProtKB:Q8BH52, ECO:0000269|PubMed:17178827}.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 CREB3L2-IKZF1


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 CREB3L2-IKZF1


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 CREB3L2-IKZF1


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 CREB3L2-IKZF1


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