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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:BTRC-IKZF3 (FusionGDB2 ID:10565)

Fusion Gene Summary for BTRC-IKZF3

check button Fusion gene summary
Fusion gene informationFusion gene name: BTRC-IKZF3
Fusion gene ID: 10565
HgeneTgene
Gene symbol

BTRC

IKZF3

Gene ID

8945

22806

Gene namebeta-transducin repeat containing E3 ubiquitin protein ligaseIKAROS family zinc finger 3
SynonymsBETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|bTrCP|bTrCP1|betaTrCPAIO|AIOLOS|ZNFN1A3
Cytomap

10q24.32

17q12-q21.1

Type of geneprotein-codingprotein-coding
DescriptionF-box/WD repeat-containing protein 1AE3RSIkappaBF-box and WD repeats protein beta-TrCPF-box and WD-repeat protein 1Bbeta-TrCP1epididymis tissue protein Li 2apIkappaBalpha-E3 receptor subunitzinc finger protein Aioloszinc finger DNA binding protein Aioloszinc finger protein, subfamily 1A, 3 (Aiolos)
Modification date2020032720200327
UniProtAcc

Q9Y297

Q9UKT9

Ensembl transtripts involved in fusion geneENST00000370187, ENST00000408038, 
ENST00000393441, ENST00000493877, 
ENST00000583368, ENST00000346243, 
ENST00000346872, ENST00000350532, 
ENST00000351680, ENST00000377944, 
ENST00000377945, ENST00000377952, 
ENST00000377958, ENST00000394189, 
ENST00000439016, ENST00000439167, 
ENST00000467757, ENST00000535189, 
Fusion gene scores* DoF score9 X 5 X 8=36034 X 12 X 14=5712
# samples 949
** MAII scorelog2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(49/5712*10)=-3.54314232502653
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTRC [Title/Abstract] AND IKZF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTRC(103221815)-IKZF3(37988404), # samples:1
Anticipated loss of major functional domain due to fusion event.BTRC-IKZF3 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BTRC-IKZF3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
BTRC-IKZF3 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
BTRC-IKZF3 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
HgeneBTRC

GO:0000209

protein polyubiquitination

12820959

HgeneBTRC

GO:0006511

ubiquitin-dependent protein catabolic process

15448698

HgeneBTRC

GO:0016567

protein ubiquitination

16885022|18354482

HgeneBTRC

GO:0042752

regulation of circadian rhythm

15917222

HgeneBTRC

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15917222


check buttonFusion gene breakpoints across BTRC (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 IKZF3 (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
ChimerDB4LUADTCGA-55-1592-01ABTRCchr10

103221815

+IKZF3chr17

37988404

-


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Fusion Gene ORF analysis for BTRC-IKZF3

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-intronENST00000370187ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-
5CDS-intronENST00000408038ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000370187ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
Frame-shiftENST00000408038ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000393441ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000346243BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000346872BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000350532BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000351680BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377944BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377945BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377952BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000377958BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000394189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000439016BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000439167BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000467757BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-3CDSENST00000493877ENST00000535189BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-intronENST00000393441ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-
intron-intronENST00000493877ENST00000583368BTRCchr10

103221815

+IKZF3chr17

37988404

-

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 BTRC-IKZF3


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 BTRC-IKZF3


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/:103221815/:37988404)
- 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
BTRC

Q9Y297

IKZF3

Q9UKT9

FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:25503564, PubMed:25704143, PubMed:9859996, PubMed:22087322). SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2 (PubMed:10835356, PubMed:11238952, PubMed:14681206, PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription (PubMed:10066435, PubMed:10497169, PubMed:10644755). Ubiquitination of NFKBIA occurs at 'Lys-21' and 'Lys-22' (PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination and subsequent degradation of nuclear NFE2L1 (By similarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2 (PubMed:15917222). May be involved in ubiquitination and subsequent proteasomal degradation through a DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3 (PubMed:16371461). Mediates ubiquitination of REST, thereby leading to its proteasomal degradation (PubMed:21258371, PubMed:18354482). {ECO:0000250|UniProtKB:Q3ULA2, ECO:0000269|PubMed:10066435, ECO:0000269|PubMed:10497169, ECO:0000269|PubMed:10644755, ECO:0000269|PubMed:10835356, ECO:0000269|PubMed:11238952, ECO:0000269|PubMed:11359933, ECO:0000269|PubMed:11994270, ECO:0000269|PubMed:12077367, ECO:0000269|PubMed:12791267, ECO:0000269|PubMed:12820959, ECO:0000269|PubMed:12902344, ECO:0000269|PubMed:14603323, ECO:0000269|PubMed:14681206, ECO:0000269|PubMed:14988407, ECO:0000269|PubMed:15448698, ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:16371461, ECO:0000269|PubMed:18354482, ECO:0000269|PubMed:21258371, ECO:0000269|PubMed:22087322, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143, ECO:0000269|PubMed:9859996}.FUNCTION: Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner. {ECO:0000269|PubMed:10369681}.

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 BTRC-IKZF3


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 BTRC-IKZF3


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 BTRC-IKZF3


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 BTRC-IKZF3


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